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50 results on '"Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG)"'

1. The molecular evolution of spermatogenesis across mammals

Author: Svante Pääbo, Henrik Kaessmann, Thoomke Brüning, Frank Grützner, Philipp Khaitovich, Francesco Lamanna, Mari Sepp, Meritxell Riera Belles, Julia Schmidt, Katharina Mößinger, Christian Conrad, Rüdiger Behr, Celine Schneider, Ronald E. Bontrop, Sofia B. Winge, Kristian Almstrup, Timo Trefzer, Florent Murat, Ivanela Kondova, Margarida Cardoso-Moreira, Evgeny Leushkin, Noe Mbengue, Mikkel H. Schierup, Tomas Marques-Bonet, Theoretical Biology and Bioinformatics, Sub Theoretical Biology, Center for Molecular Biology - Zentrum für Molekulare Biologie [Heidelberg, Germany] (ZMBH), Universität Heidelberg [Heidelberg], Aarhus University [Aarhus], University of Copenhagen = Københavns Universitet (KU), Berlin Institute of Health (BIH), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], The Francis Crick Institute [London], Biomedical Primate Research Centre [Rijswijk] (BPRC), German Primate Center - Deutsches Primatenzentrum -- Leibniz Insitute for Primate Research -- [Göttingen, Allemagne] (GPC - DPZ), German Center for Cardiovascular Research (DZHK), Skolkovo Institute of Science and Technology [Moscow] (Skoltech), Max Planck Institute for Evolutionary Anthropology [Leipzig], Max-Planck-Gesellschaft, Institut de Biologia Evolutiva [Barcelona] (IBE / UPF - CSIC), Universitat Pompeu Fabra [Barcelona] (UPF), Institució Catalana de Recerca i Estudis Avançats (ICREA), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Barcelona Institute of Science and Technology (BIST), Universitat Autònoma de Barcelona (UAB), Robinson Research Institute, and University of Adelaide
Subjects: Male, [SDV]Life Sciences [q-bio], Gene Expression, Cell-adhesion, 0302 clinical medicine, Ecology,Evolution & Ethology, Origins, Sex-chromosomes, Features, X chromosome, X-chromosome, 0303 health sciences, Spermatogenic Cell, Human Biology & Physiology, Multidisciplinary, Chromatin/genetics, Sertoli cell, Gene expression profiling, Dynamics, Chromatin, medicine.anatomical_structure, Sexual selection, Genetics & Genomics, Macaque, Model organisms, Evolution, Mammals/genetics, Biology, Chromosomes, Evolutionary genetics, Evolution, Molecular, 03 medical and health sciences, Meiosis, Molecular evolution, medicine, Animals, mammals, General, 030304 developmental biology, Computational & Systems Biology, Spermatogenesis/genetics, Molecular, Chromosome, Evolutionary pressure, spermatogenesis, Genes, Meiosis/genetics, Evolutionary biology, Testis/metabolism, 030217 neurology & neurosurgery, Developmental Biology
Abstract: The testis produces gametes through spermatogenesis and evolves rapidly at both the morphological and molecular level in mammals1-6, probably owing to the evolutionary pressure on males to be reproductively successful7. However, the molecular evolution of individual spermatogenic cell types across mammals remains largely uncharacterized. Here we report evolutionary analyses of single-nucleus transcriptome data for testes from 11 species that cover the three main mammalian lineages (eutherians, marsupials and monotremes) and birds (the evolutionary outgroup), and include seven primates. We find that the rapid evolution of the testis was driven by accelerated fixation rates of gene expression changes, amino acid substitutions and new genes in late spermatogenic stages, probably facilitated by reduced pleiotropic constraints, haploid selection and transcriptionally permissive chromatin. We identify temporal expression changes of individual genes across species and conserved expression programs controlling ancestral spermatogenic processes. Genes predominantly expressed in spermatogonia (germ cells fuelling spermatogenesis) and Sertoli (somatic support) cells accumulated on X chromosomes during evolution, presumably owing to male-beneficial selective forces. Further work identified transcriptomal differences between X- and Y-bearing spermatids and uncovered that meiotic sex-chromosome inactivation (MSCI) also occurs in monotremes and hence is common to mammalian sex-chromosome systems. Thus, the mechanism of meiotic silencing of unsynapsed chromatin, which underlies MSCI, is an ancestral mammalian feature. Our study illuminates the molecular evolution of spermatogenesis and associated selective forces, and provides a resource for investigating the biology of the testis across mammals. We thank all members of the Kaessmann group, S. Tirier for discussions and N. Trost for the administration of the Kaessmann laboratory server. Computations were performed on the Kaessmann laboratory server and the bwForCluster from the Heidelberg University Computational Center (supported by the state of Baden-Württemberg through bwHPC and the German Research Foundation grant no. INST 35/1134-1 FUGG). This research was supported by grants from the ERC (grant no. 615253, OntoTransEvol) and German Research Council (DFG, grant nos. SFB 873 and KA 1710/4-1) to H.K., by the CellNetworks Postdoc Fellowship and EMBO Long-Term Fellowship to F.M. (grant no. ALTF 591-2017), and by the Australian Research Council (grant no. FT160100267) to F.G. and by the Novo Nordisk Foundation (grant no. NNF21OC0069913) to K.A. and (grant no. NNF18OC0031004) to M.H.S. The use of all other mammalian samples for the type of work described in this study was approved by ERC ethics screening panels (ERC starting grant no. 242597, SexGenTransEvolution and ERC consolidator grant no. 615253, OntoTransEvol).
Published: 2023
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2. Parallel evolution of amphioxus and vertebrate small-scale gene duplications

Author: Marina Brasó-Vives, Ferdinand Marlétaz, Amina Echchiki, Federica Mantica, Rafael D. Acemel, José L. Gómez-Skarmeta, Diego A. Hartasánchez, Lorlane L. Targa, Pierre Pontarotti, Juan J. Tena, Ignacio Maeso, Hector Escriva, Manuel Irimia, Marc Robinson-Rechavi, Department of Ecology and Evolution [Lausanne], Université de Lausanne = University of Lausanne (UNIL), Dept of Genetics, Evolution and Environment [London] (UCL-GEE), University College of London [London] (UCL), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Andalusian Centre for Developmental Biology (CABD), Department of Computational Biology, Microbes évolution phylogénie et infections (MEPHI), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Institut Hospitalier Universitaire Méditerranée Infection (IHU Marseille), Department of Genetics, Microbiology and Statistics, and IRBio, University of Barcelona, Barcelona, Spain, Biologie intégrative des organismes marins (BIOM), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Observatoire océanologique de Banyuls (OOB), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Swiss Institute of Bioinformatics [Lausanne] (SIB), MRR acknowledges support from the Swiss National Science Foundation grant 31003A/173048, and from the Etat de Vaud. FMar acknowledges support from the Royal Society grant URF\R1\191161. MI acknowledges support from European Research Council ERC‑StG‑LS2‑637591. HE acknowledges support from the Centre National de la Recherche Scientifique and Agence Nationale de la Recherche (ANR‑16‑CE12‑0008‑01 and ANR‑19‑CE13‑0011). PP acknowledges support from the French Government under the 'Investissements d’avenir' program managed by the Agence Nationale de la Recherche (Méditerranée Infection 10‑IAHU‑03). IM acknowledges support from the Spanish Ministry of Science and Innovation and the European Union (RYC‑2016‑20089 and PGC2018‑099392‑A‑I00). JJT acknowledges support from the ERC (Grant Agreement No. 740041) and the Spanish Ministerio de Ciencia e Innovación (PID2019‑103921GB‑I00)., ANR-16-CE12-0008,CHORELAND,Détermination de la conservation du landscape génomique de régulation au cours de l'embryogenèse des chordés(2016), ANR-19-CE13-0011,NEUCECHO,Dynamique de l'induction neurale au niveau de la cellule unique chez les chordés(2019), Swiss National Science Foundation, Royal Society (UK), European Research Council, Centre National de la Recherche Scientifique (France), Agence Nationale de la Recherche (France), Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), and Agencia Estatal de Investigación (España)
Subjects: animal structures, Amphioxus, Genome assembly, Gene duplication, Vertebrate, Comparative genomics, [SDV]Life Sciences [q-bio], Genomics, Animals, Lancelets/genetics, Gene Duplication, Phylogeny, Vertebrates/genetics, Vertebrates/metabolism, Evolution, Molecular, Branchiostoma lanceolatum, Ohnolog, Small-scale duplication, Genòmica, Amfiox, Genes, Vertebrats, Vertebrates, Gens, Lancelets
Abstract: [Background]: Amphioxus are non-vertebrate chordates characterized by a slow morphological and molecular evolution. They share the basic chordate body-plan and genome organization with vertebrates but lack their 2R whole-genome duplications and their developmental complexity. For these reasons, amphioxus are frequently used as an outgroup to study vertebrate genome evolution and Evo-Devo. Aside from whole-genome duplications, genes continuously duplicate on a smaller scale. Small-scale duplicated genes can be found in both amphioxus and vertebrate genomes, while only the vertebrate genomes have duplicated genes product of their 2R whole-genome duplications. Here, we explore the history of small-scale gene duplications in the amphioxus lineage and compare it to small- and large-scale gene duplication history in vertebrates. [Results]: We present a study of the European amphioxus (Branchiostoma lanceolatum) gene duplications thanks to a new, high-quality genome reference. We find that, despite its overall slow molecular evolution, the amphioxus lineage has had a history of small-scale duplications similar to the one observed in vertebrates. We find parallel gene duplication profiles between amphioxus and vertebrates and conserved functional constraints in gene duplication. Moreover, amphioxus gene duplicates show levels of expression and patterns of functional specialization similar to the ones observed in vertebrate duplicated genes. We also find strong conservation of gene synteny between two distant amphioxus species, B. lanceolatum and B. floridae, with two major chromosomal rearrangements. [Conclusions]: In contrast to their slower molecular and morphological evolution, amphioxus’ small-scale gene duplication history resembles that of the vertebrate lineage both in quantitative and in functional terms., RR acknowledges support from the Swiss National Science Foundation grant 31003A/173048, and from the Etat de Vaud. FMar acknowledges support from the Royal Society grant URF\R1\191161. MI acknowledges support from European Research Council ERC-StG-LS2-637591. HE acknowledges support from the Centre National de la Recherche Scientifique and Agence Nationale de la Recherche (ANR-16-CE12-0008-01 and ANR-19-CE13-0011). PP acknowledges support from the French Government under the “Investissements d’avenir” program managed by the Agence Nationale de la Recherche (Méditerranée Infection 10-IAHU-03). IM acknowledges support from the Spanish Ministry of Science and Innovation and the European Union (RYC-2016-20089 and PGC2018-099392-A-I00). JJT acknowledges support from the ERC (Grant Agreement No. 740041) and the Spanish Ministerio de Ciencia e Innovación (PID2019-103921GB-I00).
Published: 2022

3. Reproducibility and accuracy of microscale thermophoresis in the NanoTemper Monolith: a multi laboratory benchmark study

Author: Caroline Mas, Grzegorz Piszczek, Marjetka Podobnik, Kathryn Perez, Timothy Sharpe, Stephen H. McLaughlin, Roland Montserret, Stefan H. Knauer, Bruno Baron, Christopher M. Johnson, Quyen Nguyen, Mark A. Williams, Katja Pirc, Arthur Sedivy, Celeste Abreu, Tina Daviter, David Ortega-Alarcon, Daumantas Matulis, Rouba Nasreddine, Carlo Carolis, Thomas A. Jowitt, Stephan Uebel, David Staunton, Andrew P. Leech, Maria Garcia-Alai, June Southall, Alexander Fish, Jitka Holková, Alexander K. Buell, Michael Weyand, Jasmina Rokov-Plavec, Blanca López-Méndez, Sylvie Berger, Josef Houser, Natalia Rodrigo, Wojciech Bal, Chad A. Brautigam, Josef Hamacek, Reine Nehmé, Olga Abian, Christian Guenther, Ondrej Vanek, Susanne Schaefer, Sharon M. Kelly, Malgorzata Adamczyk, Di Wu, Pedro Tavares, University of Copenhagen = Københavns Universitet (KU), Biophysique Moléculaire (plateforme) - Molecular Biophysics (platform), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), University of Texas Southwestern Medical Center [Dallas], University of Manchester [Manchester], Universität Bayreuth, Max Planck Institute of Biochemistry (MPIB), Max-Planck-Gesellschaft, University of London [London], Vienna Biocenter Core Facilities, Partenaires INRAE, University of Zaragoza - Universidad de Zaragoza [Zaragoza], Charles University [Prague] (CU), Warsaw University of Technology [Warsaw], Institute of Biochemistry and Biophysics, Polish Academy of Sciences (PAN), Institut de Recherches SERVIER (IRS), Technical University of Denmark [Lyngby] (DTU), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), The institute of cancer research [London], Netherlands Cancer Institute (NKI), Antoni van Leeuwenhoek Hospital, EMBL Hamburg, Centre de biophysique moléculaire (CBM), Université d'Orléans (UO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC), Central European Institute of Technology [Brno] (CEITEC MU), Brno University of Technology [Brno] (BUT), MRC Laboratory of Molecular Biology [Cambridge, UK] (LMB), University of Cambridge [UK] (CAM)-Medical Research Council, University of Glasgow, University of York [York, UK], Integrated Structural Biology Grenoble (ISBG - UMS 3518 ), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-European Molecular Biology Laboratory [Grenoble] (EMBL)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Vilnius University [Vilnius], Institut de biologie et chimie des protéines [Lyon] (IBCP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Institut de Chimie Organique et Analytique (ICOA), Université d'Orléans (UO)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut de Chimie du CNRS (INC)-Institut National de la Santé et de la Recherche Médicale (INSERM), EMBL Heidelberg, National Institute of Chemistry, National Heart, Lung, and Blood Institute [Bethesda] (NHLBI), University of Zagreb, University of Bayreuth, University of Basel (Unibas), University of Oxford [Oxford], Faculdade de Ciências e Tecnologia [Faro] (FCT), Universidade do Algarve (UAlg), This research was funded by Fondo de Investigaciones Sanitarias from Instituto de Salud Carlos III and European Union (ERDF/ESF, 'Investing in your future' PI18/00349 and Diputación General de Aragón Digestive Pathology Group B25_17R to O.A. Spanish Ministry of Science, Innovation and Universities, FPI Predoctoral Research Contract BES-2017-080739 to D.O.A. This research was funded by project no 2015/17/B/NZ2/01160 (granted to MA), we also acknowledge financial support, from the Faculty of Chemistry at Warsaw University of Technology. As part of the Federal FTI strategy, this work was generously supported by the City of Vienna and the Austrian Ministry for Education, Science and Research., Frapart, Isabelle, University of Copenhagen = Københavns Universitet (UCPH), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Max-Planck-Institut für Biochemie = Max Planck Institute of Biochemistry (MPIB), Danmarks Tekniske Universitet = Technical University of Denmark (DTU), Université d'Orléans (UO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Integrated Structural Biology Grenoble (ISBG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université d'Orléans (UO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), and University of Oxford
Subjects: 0301 basic medicine, 030103 biophysics, Materials science, Thermophoresis, Interaction, Biophysics, [SDV.BBM.BP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biophysics, Calorimetry, Benchmark, 03 medical and health sciences, Biomolècules, MST, TRIC, KD, [PHYS.PHYS.PHYS-INS-DET]Physics [physics]/Physics [physics]/Instrumentation and Detectors [physics.ins-det], Surface plasmon resonance, Monolith, Reliability (statistics), Reproducibility, geography, geography.geographical_feature_category, K D, Microscale thermophoresis, Intensity change, Temperature, Reproducibility of Results, Correction, General Medicine, Biofísica, [SDV.BBM.BP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biophysics, Benchmarking, 030104 developmental biology, [PHYS.PHYS.PHYS-INS-DET] Physics [physics]/Physics [physics]/Instrumentation and Detectors [physics.ins-det], Benchmark (computing), Original Article, Biological system, Laboratories
Abstract: Microscale thermophoresis (MST), and the closely related Temperature Related Intensity Change (TRIC), are synonyms for a recently developed measurement technique in the field of biophysics to quantify biomolecular interactions, using the (capillary-based) NanoTemper Monolith and (multiwell plate-based) Dianthus instruments. Although this technique has been extensively used within the scientific community due to its low sample consumption, ease of use, and ubiquitous applicability, MST/TRIC has not enjoyed the unambiguous acceptance from biophysicists afforded to other biophysical techniques like isothermal titration calorimetry (ITC) or surface plasmon resonance (SPR). This might be attributed to several facts, e.g., that various (not fully understood) effects are contributing to the signal, that the technique is licensed to only a single instrument developer, NanoTemper Technology, and that its reliability and reproducibility have never been tested independently and systematically. Thus, a working group of ARBRE-MOBIEU has set up a benchmark study on MST/TRIC to assess this technique as a method to characterize biomolecular interactions. Here we present the results of this study involving 32 scientific groups within Europe and two groups from the US, carrying out experiments on 40 Monolith instruments, employing a standard operation procedure and centrally prepared samples. A protein-small molecule interaction, a newly developed protein-protein interaction system and a pure dye were used as test systems. We characterized the instrument properties and evaluated instrument performance, reproducibility, the effect of different analysis tools, the influence of the experimenter during data analysis, and thus the overall reliability of this method. All authors acknowledge the COST Action project ARBRE-MOBIEU CA15126 under the auspices of whose Working Group 4 this study was carried out. ARBRE-MOBIEU COST Action CA15126 funded meetings in the Center for Protein Research, University of Copenhagen (ECOST-MEETING-CA15126-280618-098884) to organize this study and in the Vienna Biocenter Core Facilities GmbH (ECOST-MEETING-CA15126-121119-111544) to discuss the results of the benchmark. Ondřej Vaněk acknowledges support from the Ministry of Education, Youth and Sports of the Czech Republic (LTC17065 in frame of the COST Action CA15126). Jitka Holková and Josef Houser acknowledge CF Biomolecular Interactions and Crystallization of CIISB, Instruct-CZ Centre, supported by MEYS CR (LM2018127). Jasmina Rokov-Plavec acknowledges support from the Croatian Science Foundation (IP-2016-06-6272). Alexander K. Buell thanks the Novo Nordisk Foundation (grant number NNFSA170028392) for funding. Li Peng Lundgren acknowledges for preliminary MST/TRIC experiments (STMS 37745 in the frame of the COST Action CA15126) and the COST Action (CA15126) for a STMS (STMS 44783) for the data analysis. The Novo Nordisk Foundation Center for Protein Research is supported financially by the Novo Nordisk Foundation (Grant agreement NNF14CC0001). Katja Pirc and Marjetka Podobnik acknowledge the grant by the Slovenian Research Agency P1-0391 (Title: Molecular Interactions). This research was funded by Fondo de Investigaciones Sanitarias from Instituto de Salud Carlos III and European Union (ERDF/ESF, “Investing in your future” PI18/00349 and Diputación General de Aragón Digestive Pathology Group B25_17R to O.A. Spanish Ministry of Science, Innovation and Universities, FPI Predoctoral Research Contract BES-2017-080739 to D.O.A. This research was funded by project no 2015/17/B/NZ2/01160 (granted to MA)
Published: 2021

4. Neuronal perception of the social environment generates an inherited memory that controls the development and generation time of C. elegans

Author: María Teresa Camacho Olmedo, Mehrnaz Shamalnasab, Mirko Francesconi, Simona Della Valle, Alejandro Mata-Cabana, Marcos Francisco Perez, Ben Lehner, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Laboratoire de biologie et modélisation de la cellule (LBMC UMR 5239), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Departamento de Genética, Facultad de Biologia, Universidad de Sevilla, 41012 Sevilla, Spain., Universitat Pompeu Fabra [Barcelona] (UPF), Institució Catalana de Recerca i Estudis Avançats (ICREA), and ANR-19-CE12-0009,InterPhero,Dissection de l'impact intergénérationnel de la phéromone chez C. elegans(2019)
Subjects: Nervous system, Neurons, ved/biology, media_common.quotation_subject, [SDV]Life Sciences [q-bio], ved/biology.organism_classification_rank.species, Sensory system, Biology, Social Environment, Phenotype, General Biochemistry, Genetics and Molecular Biology, Germline, medicine.anatomical_structure, Sex pheromone, Perception, medicine, Animals, General Agricultural and Biological Sciences, Model organism, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Neuroscience, Weismann barrier, media_common
Abstract: Summary An old and controversial question in biology is whether information perceived by the nervous system of an animal can "cross the Weismann barrier" to alter the phenotypes and fitness of their progeny. Here, we show that such intergenerational transmission of sensory information occurs in the model organism, C. elegans, with a major effect on fitness. Specifically, that perception of social pheromones by chemosensory neurons controls the post-embryonic timing of the development of one tissue, the germline, relative to others in the progeny of an animal. Neuronal perception of the social environment thus intergenerationally controls the generation time of this animal.
Published: 2021

5. The genome of the cereal pest Sitophilus oryzae : a transposable element haven

Author: Parisot, Nicolas, Vargas-Chavez, Carlos, Goubert, Clément, Baa-Puyoulet, Patrice, Balmand, Séverine, Beranger, Louis, Blanc, Caroline, Bonnamour, Aymeric, Boulesteix, Matthieu, Burlet, Nelly, Calevro, Federica, Callaerts, Patrick, Chancy, Théo, Charles, Hubert, Colella, Stefano, Da Silva Barbosa, André, Dell’Aglio, Elisa, Di Genova, Alex, Febvay, Gérard, Gabaldon, Toni, Galvão Ferrarini, Mariana, Gerber, Alexandra, Gillet, Benjamin, Hubley, Robert, Hughes, Sandrine, Jacquin-Joly, Emmanuelle, Maire, Justin, Marcet-Houben, Marina, Masson, Florent, Meslin, Camille, Montagne, Nicolas, Moya, Andrés, Ribeiro de Vasconcelos, Ana Tereza, Richard, Gautier, Rosen, Jeb, Sagot, Marie-France, Smit, Arian F.A., Storer, Jessica, Vincent-Monegat, Carole, Vallier, Agnès, Vigneron, Aurélien, Zaidman-Remy, Anna, Zamoum, Waël, Vieira, Cristina, Rebollo, Rita, Latorre, Amparo, Heddi, Abdelaziz, Biologie Fonctionnelle, Insectes et Interactions (BF2I), Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), and Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
Subjects: [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, [SDV]Life Sciences [q-bio], [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], food and beverages
Abstract: Among beetles, the rice weevil Sitophilus oryzae is one of the most important pests causing extensive damage to cereal in fields and to stored grains. S. oryzae has an intracellular symbiotic relationship (endosymbiosis) with the Gram-negative bacterium Sodalis pierantonius and is a valuable model to decipher host-symbiont molecular interactions. We sequenced the Sitophilus oryzae genome using a combination of short and long reads to produce the best assembly for a Curculionidae species to date. We show that S. oryzae has undergone successive bursts of transposable element (TE) amplification, representing 72% of the genome. In addition, we show that many TE families are transcriptionally active, and changes in their expression are associated with insect endosymbiotic state. S. oryzae has undergone a high gene expansion rate, when compared to other beetles. Reconstruction of host-symbiont metabolic networks revealed that, despite its recent association with cereal weevils (30 Kyear), S. pierantonius relies on the host for several amino acids and nucleotides to survive and to produce vitamins and essential amino-acids required for insect development and cuticle biosynthesis. In addition to being an agricultural pest and a valuable endosymbiotic system, S. oryzae can be a remarkable model for studying TE evolution and regulation, along with the impact of TEs on eukaryotic genomes.
Published: 2021

6. A global metagenomic map of urban microbiomes and antimicrobial resistance

Author: Nadine Farhat, Tomoki Takeda, Astred Castro, Ken McGrath, Khaliun Sanchir, Iman Hajirasouliha, Eunice So, Laraib Zafar, Diana N. Nunes, Harun Mustafa, Amy Zhang, Priscilla Lisboa, Christian Schori, Marisano James, Jasna Chalangal, Sebastien Halary, Shahryar Rana, Yunmi Lee, Oli Schacher, Liliana Godoy, David A. Coil, Phanthira Pugdeethosal, Michelle D. Williams, German Marchandon, Angela Cantillo, Naoya Takahashi, Christopher Mozsary, Juana Gonzalez, Patrick K. H. Lee, Gerardo de Lamotte, Alessandro Robertiello, Steven Du, Fabienne Velter, Stefan G. Stark, Miguel Carbajo, Vincent Matthys, David A. Westfall, Julia Boeri, Irène Mauricette Mendy, Jonathan Cedillo, Francesco Oteri, Robert W. Crawford, Takayuki Ito, Tina Wunderlin, Maureen Muscat, David Paez-Espino, Carmen Urgiles, Aida Nesimi, Steffen Schaaf, Adan Ramirez-Rojas, Kunihiko Miyake, Christopher E. Mason, Anais Cardenas, Sharah Islam, Diego Benítez, Melissa Pool Pizzi, Kianna Ciaramella, Ciro Borrelli, Riham Islam, Dorottya Nagy-Szakal, Abd-Manaaf Bakere, Ait-hamlat Adel, Olha Lakhneko, Badamnyambuu Iderzorig, Ana Valeria Castro, Adam Phillips, Robert A. Petit, Flavia Corsi, Romain Conte, Krista Ryon, Soojin Jang, Joseph Benson, Fernanda de Souza Gomes Kehdy, Cindy Wang, Nicole Mathews, Jenn-Wei Chen, Rachel Paras, Paulina Pastuszek, Abigail Lyons, Paul Roldán, Muntaha Munia, Pierre Nicolas, Cassie L. Ettinger, Kyrylo Pyrshev, Katterinne N. Mendez, Eduardo Castro-Nallar, Valeriia Dotsenko, Michelle Tuz, Krizzy Mallari, Eileen Png, Yuya Sonohara, Tanja Miketic, Stéphane Delmas, Shu Zhang, Masaki Sato, Yuanting Zheng, Jifeng Zhu, Roland Häusler, Lucie Bittner, Savlatjon Rahmatulloev, Jonathan Foox, Bruno D'Alessandro, Alketa Plaku, Faisal Alquaddoomi, Yang Zhang, Kern Rei Chng, Juliana Lago, Allaeddine Chettouh, Tamera Henry, Houtan Noushmehr, Tranette Gregory, Sara Abdul Majid, Frank J. Kelly, Benjamin Pulatov, Laurie Casalot, Takema Kajita, Lennard Epping, Thais Fernanda Bartelli, Eftar Moniruzzaman, Renee Vivancos-Koopman, Thirumalaisamy P. Velavan, Tracy W. Liu, Yelyzaveta Tymoshenko, Alma Plaku, Nika Gurianova, Ambar Mendez, Anna Tomaselli, Sonia Dorado, Donato Giovannelli, Hira Choudhry, Synti Ng, Sheelta S. Kumar, Jennifer Q. Lu, Weijun Liang, Ellen Koag, Dennis Gankin, Maria João Amorim, Gwenola Simon, Kiyoshi Suganuma, Mikhail Karasikov, Christos A. Ouzounis, Madelyn May, Eran Elhaik, Stephan Ossowski, Kevin Bolzli, Matthew Arthur, Yuya Oto, Jananan Pathmanathan, Salah Mahmoud, Kou Takahashi, Brunna Marques, Kelly French, Felipe Sepúlveda, Shusei Yoshikawa, Paulo Thiago de Souza Santos, Andrew N. Gray, Juliana S Bernardes, Felipe Segato, Björn Brindefalk, George C. Yeh, Jhovana L. Velasco Flores, Jill Sullivan, Silva Baburyan, Denisse Flores, Russell Y. Neches, Sabrina Persaud, Rasheena Wright, Takumi Togashi, Verónica Antelo, Nao Kato, Skye Felice, Tatjana Mustac, Daisy Donnellan, Katerine Carrillo, Anna Litskevitch, Catalina García, Sota Ito, Naya Eady, Andrew Wan, Irene Meng, Sophie Guasco, Danilo Ercolini, Francesca De Filippis, Vincent Lemaire, Luice Fan, Lothar H. Wieler, Mariia Rybak, Jorge Sanchez, Jonathan S. Gootenberg, Itsuki Tomita, Maritza S Mosella, Laura Garcia, Natalka Makogon, Daisy Cheung, Hitler Francois Vasquez Arevalo, Freddy Asenjo, Gabriela P. Branco, Erika Cifuentes, Chloé Dequeker, Aspassia D. Chatziefthimiou, Alexis Terrero, Roy Meoded, Isabelle de Oliveira Moraes, Shaleni K. Singh, Orgil-Erdene Molomjamts, Karishma Miah, Laurent David, Wolfgang Haehr, Dao Phuong Giang, Romain Lannes, Prashanthi Ratnanandan, Ryota Yamanaka, Riccardo Vicedomini, Sadaf Ayaz, Oluwatosin M. Osuolale, Laura E. Vann, Gregory Chem, Andrea Gonzalez, Aszia Burrell, Ariel Chernomoretz, Sakura Ishizuka, Michelle Rivera, Avigdor Nosrati, Michelle B. Chen, Juliette Auvinet, Nils Ordioni, Tomoro Warashina, Guillaume Blanc, Tomislav Ivankovic, Christina Black, Lauren E. Hittle, David Hess-Homeier, Michael Kozhar, Hamood Suliman, Karobi Moitra, Saher Rahiel, Spyridon Gkotzis, Jenny Arevalo, Shaikh B. Iqbal, Beth Mutai, Mohammed Mohsin, Scott Tighe, Sylvie Collin, Yoshitaka Saito, Wayne Menary, Youping Deng, Lucy Lee, Esmeralda Jiminez, Ayuki Watanabe, Nikos C. Kyrpides, Natasha Mohan, Angelika Pupiec, Dedan Githae, Simone Cawthorne, Jonathan A. Eisen, Tomoki Iwashiro, Chiaki Homma, Thomas Saw Aung, Laura Molina, Marcus H. Y. Leung, Ophélie Da Silva, Yan Ling Wong, Hosna Noorzi, Mario Moreno, Alina Butova, Leming Shi, Brian W. Wong, Sarah S. Jackson, Moses Lin, Annabelle Meagher, Pujita Das, Catherine Burke, Mitsuki Ota, Maria Domenica Moccia, Nicolas Sprinsky, Catherine E. Pugh, David C. Green, Fazlina Fauzi, Erdenetsetseg Batdelger, Annie Geiger, Valeria Ventorino, Tolulope Oluwadare, Delisia Cuebas, Catalina Truong, Leonardo Posada, Michael Angelov, Tathiane M. Malta, Amanda Ng, Francesca Nadalin, Arya Hawkins-Zafarnia, Yuh Shiwa, Athena Mitsios, Milton Ozório Moraes, Manolo Laiola, Kalyn Ali, Jaden J.A. Hastings, Ikuto Saito, Maheen Shakil, Chisato Suzuki, Elena M. Vayndorf, Hubert Rehrauer, Ajay Menon, Kaitlan Russell, Aliyah Shari, Rebecca Smith, Gregorio Iraola, Max Priestman, Alan Briones, Silver A. Wolf, Camila Gonzalez-Poblete, Eleonora De Lazzari, Shirley Chiu, Michelle Ki, Irene Hoxie, Marianne Jaubert, Ayantu Jinfessa, Ryan J. King, Nghiem Xuan Hoan, Jalia Bynoe, Jacob Friedman, Aneisa Ramcharan, Pablo Fresia, Cristina Muñoz, Muhammad Afaq, Anyi Tang, Médine Benchouaia, Isabella Kuniko T. Takenaka, Anastasia Chasapi, Areeg Naeem, Hannah Benisty, Cecilia N. Cossio, Nathalie Hüsser, Mahfuza Sabina, Thais S. Sabedot, JoAnn Jacobs, Camila P. E. de Souza, Manuela Oliveira, Jean-Pierre Bouly, Mariko Usui, Wilson Miranda, Natalia Marciniak, Hiram Caballero, Samuel Weekes, Alexandra B. Graf, Emily Leong, Tatyana Nikolayeva, Dominique Thomas, Charlotte Greselle, Cecilia Salazar, Sreya Ray Chaudhuri, Kevin Becher, Sandra Roth, Ryusei Miura, Kari Oline Bøifot, Dimitri Manoir, Oliver Toth, Chandrima Bhattacharya, Manuel Perez, Isha Lamba, Takafumi Tsurumaki, Timothy D. Read, Anna-Lena M. Schinke, Ryan Sankar, Le Huu Song, Narasimha Rao Nedunuri, Emmanuel Dias-Neto, Ana Flávia Costa, Adiell Melamed, Christelle Desnues, Natalie R. Davidson, Aaron E. Darling, Hyung Jun Kim, Josephine Galipon, Jacqueline Orrego, Dimitar Vassilev, Michael Huber, Nur Hazlin Hazrin-Chong, Gaston H. Gonnet, Kaymisha Knights, Osman U. Sezerman, Dmitry Meleshko, Eunice Thambiraja, Jingcheng Yang, Aubin Fleiss, Gloria Nguyen, Katelyn Jackson, Nuria Aventin, Stephanie L. Hyland, Andrea Hässig, Catharine Aquino, Simona Lysakova, Israel O. Osuolale, Kasia Sluzek, Rania Siam, Alina Frolova, Samuel Hernandez, Yui Him Lo, Bazartseren Boldgiv, Ben Young, Maryna Korshevniuk, Majelia Ampadu, Yuk Man Tang, Amanda L. Muehlbauer, Sade Thomas, Gabriel Figueroa, Alexis Rivera, Lisbeth Pineda, Alexandra Dutan, Jennifer M. Tran, Chris K. Deng, Vedbar S. Khadka, Paola Florez de Sessions, Elizabeth Humphries, Hugues Richard, Hiba Naveed, Nora C. Toussaint, Mahshid Khavari, Maria del Mar Vivanco Ruiz, Antonin Thiébaut, Nicolás Rascovan, Marius Dybwad, Orhan Özcan, Lawrence Kwong, David Danko, Shaira Khan, Andrea Tassinari, Silvia Beurmann, Tsoi Ying Lai, Nanami Kubota, Tieliu Shi, Diana Chicas, Evan E. Afshin, Hirokazu Yano, Jonas Krebs, Mayuko Nakagawa, Hyun Jung Lee, Irene González Navarrete, Rachid Ounit, Lucia E. Alvarado-Arnez, Masaki Nasu, Allison Chan, Harilanto Andrianjakarivony, Jennifer Amachee, Mahdi Taye, Wan Chiew Ng, Kathryn O’Brien, Shino Ishikawa, Tristan Bitard-Feildel, Sora Takagi, Felix Hartkopf, Niamh B. O’Hara, Marcos A. S. Fonseca, Subhamitra Pakrashi, Amrit Kaur, Eva Hell, Patricia Vera-Wolf, Naimah Munim, Luiza Ferreira de Araújo, Mizuki Igarashi, Brianna Pompa-Hogan, Alessandra Carbone, Anne-Sophie Benoiston, Eric Helfrich, Michael A. Suarez-Villamil, Omar O. Abudayyeh, Natasha Abdullah, Jaime J. Fuentes, Juan Carlos Forero, Tetiana Yeskova, Denis Bertrand, Sambhawa Priya, Denisse Maldonado, Agier Nicolas, Ana Valeria B Castro, Starr Chatziefthimiou, André Kahles, Aaishah Francis, Fernanda Arredondo, Emilio Tarcitano, Irvind Buttar, Alex Alexiev, Jennifer Molinet, Sarah Shalaby, Itunu A. Oluwadare, Jason Sperry, Katrin Bakhl, Ana M. Cañas, Sofia Ahsanuddin, Miar Elaskandrany, Elodie Laine, Sven Bönigk, Johannes Werner, Stephen Eduard Boja Ruiz, Gargi Dayama, Paulina Buczansla, Brandon Valentine, Bharath Prithiviraj, Toni Bode, Stas Zubenko, Jake Cohen, Guilllaume Jospin, Zulena Saravi, Per O. Ljungdahl, Inderjit Kaur, Mauricio Moldes, Giuseppe KoLoMonaco, Denise Syndercombe Court, Sonia Bouchard, Sonia Losim, Sookwon Moon, Heba Shaaban, Suraj Patel, Sibo Zhu, Sarh Aly, Arif Asyraf Md Supie, LaShonda Dorsey, Juan Guerra, François Baudon, Rantimi A. Olawoyin, Alexia Bordigoni, Iqra Faiz, Mathilde Garcia, Gabriella Mason-Buck, María Gabriela Portilla, Niranjan Nagarajan, Fumie Takahara, Nancy Merino, Watson Andrew, Gina Kim, Yuma Sato, Hyenah Shim, Marie-Laure Jerier, Affifah Saadah Ahmad Kassim, Katerina Kuchin, Daniel Butler, Paweł P. Łabaj, Nadezhda Kobko-Litskevitch, Emmanuel F. Mongodin, Yuto Togashi, Paula Rodríguez, Pilar Lopez Hernandez, Xiaoqing Chen, Maria A. Sierra, Olga Nikolayeva, Manon Loubens, Colleen Conger, Hikaru Shirahata, Chenhao Li, Timothy Donahoe, Youngja Park, Lucia Elena Alvarado Arnez, Salama Chaker, Francisco Chavez, Alessandra Breschi, Jorge L. Sanchez, Kaung Myat San, Nayra Aguilar Rojas, Marcos Abraao, Kai Sasaki, Bryan Nazario, Olena Yemets, Klas I. Udekwu, Lynn M. Schriml, Anisia Peters, Aliaksei Holik, Mark Hernandez, Emile Faure, Malay Bhattacharyya, Josef W. Moser, Núria Andreu Somavilla, María Mercedes Zambrano, Kannan Rajendran, Gabriela E. Albuquerque, Tao Qing, Kazutoshi Tsuda, Ymke De Jong, Princess Osma, Mayra Arauco Livia, Javier Quilez Oliete, Carl Chrispin, Hyun Woo Joo, Ingrid Lafontaine, Nala An, Seisuke Sato, Felipe Segato Dezem, Andrew Maltez Thomas, Alexandre Desert, Xiao Wen Cai, O. Osuolale, Jun Wu, Coral Pardo-Esté, Courtney Robinson, Yuri Matsuzaki, Marina Nieto-Caballero, Cem Meydan, Ralph Schlapbach, Mark Menor, Sofia Castro, Rachel Kwong, Brittany Blyther, Olexandr Lykhenko, Jason R. Schriml, Christian Brion, Jenessa Orpilla, Juan A. Ugalde, Elsy Mankah Ngwa, Álvaro Aranguren, Lauren Mak, Matías Giménez, Ashanti Narce, Torsten Semmler, Stefan I. Tsonev, Abdollahi Nika, Katherine E. Dahlhausen, Monika Devi, Gunnar Rätsch, Oasima Muner, Carla Bello, Muhammad Al-Fath Amran, Anyelic Rosario, Melissa Ortega, Andrea Patrignani, Ante Peros, Elias McComb, Ryo Sato, Ireen Alam, Clara N. Dias, Soma Tanaka, Dayana Calderon, Ran Blekhman, Mathilde Mignotte, Alicia Boyd, Jochen Hecht, Thomas Neff, Xinzhao Tong, Josue Alicea, Kiara Olmeda, Sonia Marinovic, Carme Arnan, Kohei Ito, Samantha L. Goldman, Marianna S. Serpa, Renee Richer, Kaisei Sato, Jordana M. Silva, Akash Keluth Chavan, Sangwan Kim, Laís Pereira Ferreira, Sophie Vacant, Nowshin Sayara, Haruo Suzuki, Madeline Leahy, Juan C. Severyn, Sierra Vincent, Masaru Tomita, Maliha Mamun, Lucinda B. Davenport, Gabriella Oken, Dagmara Lewandowska, Gustavo Adolfo Malca Salas, Andrii Kuklin, Tyler Wong, Charlie Feigin, Eric Minwei Liu, Sonia L. Ghose, Daniela Bezdan, Antonietta La Storia, Juan P. Escalera-Antezana, Nuno Rufino de Sousa, Samuel M. Gerner, Weill Cornell Medicine [New York], Icahn School of Medicine at Mount Sinai [New York] (MSSM), Genome Institute of Singapore (GIS), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology [Zürich] (ETH Zürich), Lawrence Berkeley National Laboratory [Berkeley] (LBNL), AUTRES, Massachusetts Institute of Technology (MIT), Indian Statistical Institute [Kolkata], University of Minnesota System, Universidad Andrés Bello [Santiago] (UNAB), California State University [Sacramento], University of Naples Federico II, University of Hawaii, Institut méditerranéen d'océanologie (MIO), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université de Toulon (UTLN), Medical Genomics Group, University College of London [London] (UCL)-UCL Cancer Institute, Norwegian Defence Research Establishment (FFI), Lund University [Lund], Institute of Molecular Biology and Genetics of National Academy of Sciences of Ukraine, University of Vienna [Vienna], King‘s College London, University of Colorado [Boulder], Institut Pasteur de Montevideo, Réseau International des Instituts Pasteur (RIIP), Institut Pasteur Korea - Institut Pasteur de Corée, Fudan University [Shanghai], City University of Hong Kong [Hong Kong] (CUHK), Stockholm University, University of Maryland School of Medicine, University of Maryland System, Fundação Oswaldo Cruz (FIOCRUZ), University of São Paulo (USP), Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Barcelona Institute of Science and Technology (BIST), Elizade University, Acibadem Mehmet Ali Aydınlar University, Paléogénomique microbienne - Microbial paleogenomics, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU), Robert Koch Institute [Berlin] (RKI), East China Normal University [Shangaï] (ECNU), Cairo University, Vietnamese-German Center for Medical Research, Keio University, Université du Vermont, Universidad del Desarrollo, University of Sofia, University of Alaska [Fairbanks] (UAF), Universitätsklinikum Tübingen - University Hospital of Tübingen, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Corporación Corpogen-Research Center, Biologie Computationnelle et Quantitative = Laboratory of Computational and Quantitative Biology (LCQB), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Weill Cornell Medicine [Cornell University], Cornell University [New York], University of Naples Federico II = Università degli studi di Napoli Federico II, Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut national des sciences de l'Univers (INSU - CNRS)-Université de Toulon (UTLN)-Centre National de la Recherche Scientifique (CNRS), Fundação Oswaldo Cruz / Oswaldo Cruz Foundation (FIOCRUZ), Universidade de São Paulo = University of São Paulo (USP), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Софийски университет = Sofia University, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Universidad Andrés Bello - UNAB (CHILE), Acibadem University Dspace, Danko, D., Bezdan, D., Afshin, E. E., Ahsanuddin, S., Bhattacharya, C., Butler, D. J., Chng, K. R., Donnellan, D., Hecht, J., Jackson, K., Kuchin, K., Karasikov, M., Lyons, A., Mak, L., Meleshko, D., Mustafa, H., Mutai, B., Neches, R. Y., Ng, A., Nikolayeva, O., Nikolayeva, T., Png, E., Ryon, K. A., Sanchez, J. L., Shaaban, H., Sierra, M. A., Thomas, D., Young, B., Abudayyeh, O. O., Alicea, J., Bhattacharyya, M., Blekhman, R., Castro-Nallar, E., Canas, A. M., Chatziefthimiou, A. D., Crawford, R. W., De Filippis, F., Deng, Y., Desnues, C., Dias-Neto, E., Dybwad, M., Elhaik, E., Ercolini, D., Frolova, A., Gankin, D., Gootenberg, J. S., Graf, A. B., Green, D. C., Hajirasouliha, I., Hastings, J. J. A., Hernandez, M., Iraola, G., Jang, S., Kahles, A., Kelly, F. J., Knights, K., Kyrpides, N. C., Labaj, P. P., Lee, P. K. H., Leung, M. H. Y., Ljungdahl, P. O., Mason-Buck, G., Mcgrath, K., Meydan, C., Mongodin, E. F., Moraes, M. O., Nagarajan, N., Nieto-Caballero, M., Noushmehr, H., Oliveira, M., Ossowski, S., Osuolale, O. O., Ozcan, O., Paez-Espino, D., Rascovan, N., Richard, H., Ratsch, G., Schriml, L. M., Semmler, T., Sezerman, O. U., Shi, L., Shi, T., Siam, R., Song, L. H., Suzuki, H., Court, D. S., Tighe, S. W., Tong, X., Udekwu, K. I., Ugalde, J. A., Valentine, B., Vassilev, D. I., Vayndorf, E. M., Velavan, T. P., Wu, J., Zambrano, M. M., Zhu, J., Zhu, S., Mason, C. E., Abdullah, N., Abraao, M., Adel, A. -H., Afaq, M., Al-Quaddoomi, F. S., Alam, I., Albuquerque, G. E., Alexiev, A., Ali, K., Alvarado-Arnez, L. E., Aly, S., Amachee, J., Amorim, M. G., Ampadu, M., Amran, M. A. -F., An, N., Andrew, W., Andrianjakarivony, H., Angelov, M., Antelo, V., Aquino, C., Aranguren, A., Araujo, L. F., Vasquez Arevalo, H. F., Arevalo, J., Arnan, C., Alvarado Arnez, L. E., Arredondo, F., Arthur, M., Asenjo, F., Aung, T. S., Auvinet, J., Aventin, N., Ayaz, S., Baburyan, S., Bakere, A. -M., Bakhl, K., Bartelli, T. F., Batdelger, E., Baudon, F., Becher, K., Bello, C., Benchouaia, M., Benisty, H., Benoiston, A. -S., Benson, J., Benitez, D., Bernardes, J., Bertrand, D., Beurmann, S., Bitard-Feildel, T., Bittner, L., Black, C., Blanc, G., Blyther, B., Bode, T., Boeri, J., Boldgiv, B., Bolzli, K., Bordigoni, A., Borrelli, C., Bouchard, S., Bouly, J. -P., Boyd, A., Branco, G. P., Breschi, A., Brindefalk, B., Brion, C., Briones, A., Buczansla, P., Burke, C. M., Burrell, A., Butova, A., Buttar, I., Bynoe, J., Bonigk, S., Boifot, K. O., Caballero, H., Cai, X. W., Calderon, D., Cantillo, A., Carbajo, M., Carbone, A., Cardenas, A., Carrillo, K., Casalot, L., Castro, S., Castro, A. V., Castro, A., Castro, A. V. B., Cawthorne, S., Cedillo, J., Chaker, S., Chalangal, J., Chan, A., Chasapi, A. I., Chatziefthimiou, S., Chaudhuri, S. R., Chavan, A. K., Chavez, F., Chem, G., Chen, X., Chen, M., Chen, J. -W., Chernomoretz, A., Chettouh, A., Cheung, D., Chicas, D., Chiu, S., Choudhry, H., Chrispin, C., Ciaramella, K., Cifuentes, E., Cohen, J., Coil, D. A., Collin, S., Conger, C., Conte, R., Corsi, F., Cossio, C. N., Costa, A. F., Cuebas, D., D'Alessandro, B., Dahlhausen, K. E., Darling, A. E., Das, P., Davenport, L. B., David, L., Davidson, N. R., Dayama, G., Delmas, S., Deng, C. K., Dequeker, C., Desert, A., Devi, M., Dezem, F. S., Dias, C. N., Donahoe, T. R., Dorado, S., Dorsey, L., Dotsenko, V., Du, S., Dutan, A., Eady, N., Eisen, J. A., Elaskandrany, M., Epping, L., Escalera-Antezana, J. P., Ettinger, C. L., Faiz, I., Fan, L., Farhat, N., Faure, E., Fauzi, F., Feigin, C., Felice, S., Ferreira, L. P., Figueroa, G., Fleiss, A., Flores, D., Velasco Flores, J. L., Fonseca, M. A. S., Foox, J., Forero, J. C., Francis, A., French, K., Fresia, P., Friedman, J., Fuentes, J. J., Galipon, J., Garcia, M., Garcia, L., Garcia, C., Geiger, A., Gerner, S. M., Ghose, S. L., Giang, D. P., Gimenez, M., Giovannelli, D., Githae, D., Gkotzis, S., Godoy, L., Goldman, S., Gonnet, G. H., Gonzalez, J., Gonzalez, A., Gonzalez-Poblete, C., Gray, A., Gregory, T., Greselle, C., Guasco, S., Guerra, J., Gurianova, N., Haehr, W., Halary, S., Hartkopf, F., Hawkins-Zafarnia, A., Hazrin-Chong, N. H., Helfrich, E., Hell, E., Henry, T., Hernandez, S., Hernandez, P. L., Hess-Homeier, D., Hittle, L. E., Hoan, N. X., Holik, A., Homma, C., Hoxie, I., Huber, M., Humphries, E., Hyland, S., Hassig, A., Hausler, R., Husser, N., Petit, R. A., Iderzorig, B., Igarashi, M., Iqbal, S. B., Ishikawa, S., Ishizuka, S., Islam, S., Islam, R., Ito, K., Ito, S., Ito, T., Ivankovic, T., Iwashiro, T., Jackson, S., Jacobs, J., James, M., Jaubert, M., Jerier, M. -L., Jiminez, E., Jinfessa, A., De Jong, Y., Joo, H. W., Jospin, G., Kajita, T., Ahmad Kassim, A. S., Kato, N., Kaur, A., Kaur, I., de Souza Gomes Kehdy, F., Khadka, V. S., Khan, S., Khavari, M., Ki, M., Kim, G., Kim, H. J., Kim, S., King, R. J., Kolomonaco, G., Koag, E., Kobko-Litskevitch, N., Korshevniuk, M., Kozhar, M., Krebs, J., Kubota, N., Kuklin, A., Kumar, S. S., Kwong, R., Kwong, L., Lafontaine, I., Lago, J., Lai, T. Y., Laine, E., Laiola, M., Lakhneko, O., Lamba, I., de Lamotte, G., Lannes, R., De Lazzari, E., Leahy, M., Lee, H., Lee, Y., Lee, L., Lemaire, V., Leong, E., Lewandowska, D., Li, C., Liang, W., Lin, M., Lisboa, P., Litskevitch, A., Liu, E. M., Liu, T., Livia, M. A., Lo, Y. H., Losim, S., Loubens, M., Lu, J., Lykhenko, O., Lysakova, S., Mahmoud, S., Majid, S. A., Makogon, N., Maldonado, D., Mallari, K., Malta, T. M., Mamun, M., Manoir, D., Marchandon, G., Marciniak, N., Marinovic, S., Marques, B., Mathews, N., Matsuzaki, Y., Matthys, V., May, M., Mccomb, E., Meagher, A., Melamed, A., Menary, W., Mendez, K. N., Mendez, A., Mendy, I. M., Meng, I., Menon, A., Menor, M., Meoded, R., Merino, N., Miah, K., Mignotte, M., Miketic, T., Miranda, W., Mitsios, A., Miura, R., Miyake, K., Moccia, M. D., Mohan, N., Mohsin, M., Moitra, K., Moldes, M., Molina, L., Molinet, J., Molomjamts, O. -E., Moniruzzaman, E., Moon, S., de Oliveira Moraes, I., Moreno, M., Mosella, M. S., Moser, J. W., Mozsary, C., Muehlbauer, A. L., Muner, O., Munia, M., Munim, N., Muscat, M., Mustac, T., Munoz, C., Nadalin, F., Naeem, A., Nagy-Szakal, D., Nakagawa, M., Narce, A., Nasu, M., Navarrete, I. G., Naveed, H., Nazario, B., Nedunuri, N. R., Neff, T., Nesimi, A., Ng, W. C., Ng, S., Nguyen, G., Ngwa, E., Nicolas, A., Nicolas, P., Nika, A., Noorzi, H., Nosrati, A., Nunes, D. N., O'Brien, K., O'Hara, N. B., Oken, G., Olawoyin, R. A., Oliete, J. Q., Olmeda, K., Oluwadare, T., Oluwadare, I. A., Ordioni, N., Orpilla, J., Orrego, J., Ortega, M., Osma, P., Osuolale, I. O., Osuolale, O. M., Ota, M., Oteri, F., Oto, Y., Ounit, R., Ouzounis, C. A., Pakrashi, S., Paras, R., Pardo-Este, C., Park, Y. -J., Pastuszek, P., Patel, S., Pathmanathan, J., Patrignani, A., Perez, M., Peros, A., Persaud, S., Peters, A., Phillips, A., Pineda, L., Pizzi, M. P., Plaku, A., Pompa-Hogan, B., Portilla, M. G., Posada, L., Priestman, M., Prithiviraj, B., Priya, S., Pugdeethosal, P., Pugh, C. E., Pulatov, B., Pupiec, A., Pyrshev, K., Qing, T., Rahiel, S., Rahmatulloev, S., Rajendran, K., Ramcharan, A., Ramirez-Rojas, A., Rana, S., Ratnanandan, P., Read, T. D., Rehrauer, H., Richer, R., Rivera, A., Rivera, M., Robertiello, A., Robinson, C., Rodriguez, P., Rojas, N. A., Roldan, P., Rosario, A., Roth, S., Ruiz, M., Boja Ruiz, S. E., Russell, K., Rybak, M., Sabedot, T. S., Sabina, M., Saito, I., Saito, Y., Malca Salas, G. A., Salazar, C., San, K. M., Sanchez, J., Sanchir, K., Sankar, R., de Souza Santos, P. T., Saravi, Z., Sasaki, K., Sato, Y., Sato, M., Sato, S., Sato, R., Sato, K., Sayara, N., Schaaf, S., Schacher, O., Schinke, A. -L. M., Schlapbach, R., Schori, C., Schriml, J. R., Segato, F., Sepulveda, F., Serpa, M. S., De Sessions, P. F., Severyn, J. C., Shakil, M., Shalaby, S., Shari, A., Shim, H., Shirahata, H., Shiwa, Y., Da Silva, O., Silva, J. M., Simon, G., Singh, S. K., Sluzek, K., Smith, R., So, E., Andreu Somavilla, N., Sonohara, Y., Rufino de Sousa, N., Souza, C., Sperry, J., Sprinsky, N., Stark, S. G., La Storia, A., Suganuma, K., Suliman, H., Sullivan, J., Supie, A. A. M., Suzuki, C., Takagi, S., Takahara, F., Takahashi, N., Takahashi, K., Takeda, T., Takenaka, I. K., Tanaka, S., Tang, A., Man Tang, Y., Tarcitano, E., Tassinari, A., Taye, M., Terrero, A., Thambiraja, E., Thiebaut, A., Thomas, S., Thomas, A. M., Togashi, Y., Togashi, T., Tomaselli, A., Tomita, M., Tomita, I., Toth, O., Toussaint, N. C., Tran, J. M., Truong, C., Tsonev, S. I., Tsuda, K., Tsurumaki, T., Tuz, M., Tymoshenko, Y., Urgiles, C., Usui, M., Vacant, S., Vann, L. E., Velter, F., Ventorino, V., Vera-Wolf, P., Vicedomini, R., Suarez-Villamil, M. A., Vincent, S., Vivancos-Koopman, R., Wan, A., Wang, C., Warashina, T., Watanabe, A., Weekes, S., Werner, J., Westfall, D., Wieler, L. H., Williams, M., Wolf, S. A., Wong, B., Wong, Y. L., Wong, T., Wright, R., Wunderlin, T., Yamanaka, R., Yang, J., Yano, H., Yeh, G. C., Yemets, O., Yeskova, T., Yoshikawa, S., Zafar, L., Zhang, Y., Zhang, S., Zhang, A., Zheng, Y., and Zubenko, S.
Subjects: Urban Population, Drug Resistance, Sequence assembly, Microbiologia, microbiome, global health, computer.software_genre, Medical and Health Sciences, shotgun sequencing, BGC, 0302 clinical medicine, Databases, Genetic, 11. Sustainability, Global health, AMR, 11 Medical and Health Sciences, ComputingMilieux_MISCELLANEOUS, 0303 health sciences, built environment, metagenome, antimicrobial resistance, NGS, de novo assembly, biology, Shotgun sequencing, Microbiota, built Environment, Bacterial, Biodiversity, Biological Sciences, 3. Good health, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Infection, Biotechnology, Geospatial analysis, [SDV.BID]Life Sciences [q-bio]/Biodiversity, Article, General Biochemistry, Genetics and Molecular Biology, Databases, 03 medical and health sciences, Antibiotic resistance, Genetic, Drug Resistance, Bacterial, International MetaSUB Consortium, Genetics, Humans, Microbiome, 030304 developmental biology, Human Genome, 06 Biological Sciences, 15. Life on land, biology.organism_classification, Resistènica als medicaments antiinfecciosos, SAÚDE PÚBLICA, Genòmica, 13. Climate action, Evolutionary biology, Metagenomics, Antimicrobial Resistance, [SDE.BE]Environmental Sciences/Biodiversity and Ecology, computer, 030217 neurology & neurosurgery, Archaea, Developmental Biology
Abstract: Summary We present a global atlas of 4,728 metagenomic samples from mass-transit systems in 60 cities over 3 years, representing the first systematic, worldwide catalog of the urban microbial ecosystem. This atlas provides an annotated, geospatial profile of microbial strains, functional characteristics, antimicrobial resistance (AMR) markers, and genetic elements, including 10,928 viruses, 1,302 bacteria, 2 archaea, and 838,532 CRISPR arrays not found in reference databases. We identified 4,246 known species of urban microorganisms and a consistent set of 31 species found in 97% of samples that were distinct from human commensal organisms. Profiles of AMR genes varied widely in type and density across cities. Cities showed distinct microbial taxonomic signatures that were driven by climate and geographic differences. These results constitute a high-resolution global metagenomic atlas that enables discovery of organisms and genes, highlights potential public health and forensic applications, and provides a culture-independent view of AMR burden in cities., Graphical abstract, Highlights • Cities possess a consistent “core” set of non-human microbes • Urban microbiomes echo important features of cities and city-life • Antimicrobial resistance genes are widespread in cities • Cities contain many novel bacterial and viral species, This systematic, worldwide catalog of urban microbiomes represents a metagenomic atlas important for understanding the ecology, virulence, and antibiotic resistance of city-specific microbial communities.
Published: 2021

7. TGFβ signaling curbs cell fusion and muscle regeneration

Author: Girardi, Francesco, Taleb, Anissa, Giordani, Lorenzo, Datye, Asiman, Ebrahimi, Majid, Gamage, Dilani, Millay, Douglas, Gilbert, Penney, Le Grand, Fabien, Bottanelli, Francesca, Cadot, Bruno, Campelo, Felix, Curran, Scott, Davidson, Patricia, Dey, Gautam, Raote, Ishier, Straube, Anne, Swaffer, Matthew, Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), University of Toronto, Cincinnati Children's Hospital Medical Center, Donnelly Centre [Toronto, ON, Canada], Institut de Ciencies Fotoniques [Castelldefels] (ICFO), Laboratoire Physico-Chimie Curie [Institut Curie] (PCC), Institut Curie [Paris]-Institut de Chimie du CNRS (INC)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Wellcome Trust Centre for Cell Biology, University of Edinburgh, Centre de recherche en Myologie – U974 SU-INSERM, Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Gestionnaire, HAL Sorbonne Université 5
Subjects: [SDV.MHEP.AHA] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Muscle stem cells, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Musculoskeletal development
Abstract: International audience; Fusion of muscle progenitor cells is necessary for skeletal muscle development and repair. Cell fusion is a multistep process involving cell migration, adhesion, membrane remodeling and actin-nucleation pathways to generate multinucleated myotubes. While the cellular and molecular mechanisms promoting muscle cell fusion have been intensely investigated in recent years, molecular brakes restraining cell–cell fusion events to control syncytia formation have remained elusive. Here, we show that transforming growth factor beta (TGFβ) signaling is active in adult muscle cells throughout the fusion process and reduce muscle cell fusion independently of the differentiation step. In contrast, inhibition of TGFβ signaling enhances cell fusion and promotes branching between myotubes. Pharmacological modulation of the pathway in vivo perturbs muscle regeneration after injury. Exogenous addition of TGFβ protein results in a loss of muscle function while inhibition of the TGFβ pathway induces the formation of giant myofibres. Transcriptome analyses and functional assays revealed that TGFβ acts on actin dynamics and reduce cell spreading through modulation of actin-based protrusions. Together our results reveal a signaling pathway that limits mammalian myoblast fusion and add a new level of understanding to the molecular regulation of myogenesis.
Published: 2021

8. 4D nucleome modeling

Author: Marc A. Marti-Renom, Jonas Paulsen, Marco Di Stefano, Daniel Jost, Barcelona Institute of Science and Technology (BIST), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), University of Oslo (UiO), Laboratoire de biologie et modélisation de la cellule (LBMC UMR 5239), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-École normale supérieure - Lyon (ENS Lyon)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universitat Pompeu Fabra [Barcelona] (UPF), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), ANR-18-CE12-0006,SinFONIE,Dynamique de la chromatine des gènes œstrogéno-régulés(2018), ANR-18-CE45-0022,3DynOrg,Modélisation quantitative de l'organisation dynamique 3D des chromosomes(2018), and Jost, Daniel
Subjects: DNA Replication, DNA Repair, Transcription, Genetic, [SDV]Life Sciences [q-bio], Computational biology, Biology, Genome, Chromosomes, Article, Chromosome conformation capture, 03 medical and health sciences, 0302 clinical medicine, Component (UML), Genetics, Genomes, 030304 developmental biology, 0303 health sciences, DNA, ADN -- Anàlisi, Models, Theoretical, Replication (computing), Complement (complexity), Nucleosomes, Cromosomes, [SDV] Life Sciences [q-bio], 030217 neurology & neurosurgery, Developmental Biology, DNA Damage
Abstract: The intrinsic dynamic nature of chromosomes is emerging as a fundamental component in regulating DNA transcription, replication, and damage-repair among other nuclear functions. With this increased awareness, reinforced over the last ten years, many new experimental techniques, mainly based on microscopy and chromosome conformation capture, have been introduced to study the genome in space and time. Owing to the increasing complexity of these cutting-edge techniques, computational approaches have become of paramount importance to interpret, contextualize, and complement such experiments with new insights. Hence, it is becoming crucial for experimental biologists to have a clear understanding of the diverse theoretical modeling approaches available and the biological information each of them can provide. M.A.M-R. acknowledges support from the European Union’s Seventh Framework Programme through the ERC (grant agreement 609989), European Union’s Horizon 2020 research and innovation programme (grant agreement 676556), and the Spanish Ministerio de Ciencia, Innovación y Universidades (BFU2017-85926-P). M.D.S. acknowledges support from the ORION project that has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement (grant agreement 741527). D.J. acknowledges Agence Nationale de la Recherche (ANR-18-CE12-0006-03, ANR-18-CE45-0022-01) for funding. CRG acknowledges support from ‘Centro de Excelencia Severo Ochoa 2013-2017’, SEV-2012-0208 and the CERCA Programme/Generalitat de Catalunya as well as support of the Spanish Ministry of Science and Innovation through the Instituto de Salud Carlos III and the EMBL partnership, the Generalitat de Catalunya through Departament de Salut and Departament d’Empresa i Coneixement, and the Co-financing with funds from the European Regional Development Fund (ERDF) by the Spanish Ministery of Science and Innovation coresponding to the Programa Opertaivo FEDER Plurirregional de España (POPE) 2014-2020 and by the Secretaria d'Universitats i Recerca, Departament d'Empresa i Coneixement of the Generalitat de Catalunya corresponding to the programa Operatiu FEDER Catalunya 2014-2020. Open Access fees paid from COST Action INC (CA18127), supported by COST (European Cooperation in Science and Technology)
Published: 2021

9. Genetic data from the extinct giant rat from Tenerife (Canary Islands) points to a recent divergence from mainland relatives

Author: Pere Renom, Toni de-Dios, Sergi Civit, Laia Llovera, Alejandro Sánchez-Gracia, Esther Lizano, Juan Carlos Rando, Tomàs Marquès-Bonet, Gael J. Kergoat, Isaac Casanovas-Vilar, Carles Lalueza-Fox, Max Planck Society, Ministerio de Ciencia, Innovación y Universidades (España), German Research Foundation, Comunidad de Madrid, National Science Foundation (US), Ministerio de Economía y Competitividad (España), Institut de Biologia Evolutiva [Barcelona] (IBE / UPF - CSIC), Universitat Pompeu Fabra [Barcelona] (UPF), Institute of Genomics [Tartu, Estonia], University of Tartu, Institut de Recerca de la Biodiversitat - Biodiversity Research Institute [Barcelona, Spain] (IRBio UB), Universitat de Barcelona (UB), Institut Català de Paleontologia Miquel Crusafont, Universitat Autònoma de Barcelona (UAB), Universidad de La Laguna [Tenerife - SP] (ULL), Departamento de Biología Animal, Edafología y Geología, Institució Catalana de Recerca i Estudis Avançats (ICREA), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Barcelona Institute of Science and Technology (BIST), Centre de Biologie pour la Gestion des Populations (UMR CBGP), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Université de Montpellier (UM)-Institut de Recherche pour le Développement (IRD [France-Sud])-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut Agro - Montpellier SupAgro, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), C.L.-F. is supported by a PGC2018-0955931-B-100 grant (MCIU/AEI/FEDER, UE) of Spain, T.M.-B. is supported by funding from the European Research Council (ERC) (grant agreement no. 864203), BFU2017-86471-P (MINECO/FEDER, UE), ‘Unidad de Excelencia María de Maeztu’, funded by the AEI (CEX2018-000792-M), Howard Hughes International Early Career and Generalitat de Catalunya (CERCA Programme and 2017 SGR 880), and I.C.-V. is supported by grant nos. I+D+i PID2020-117289GBI00 funded by MCIN/AEI/10.13039/501100011033/, the MINECO (RYC-2013-12470) and the Generalitat de Catalunya (CERCA Programme and 2017 SGR 116).
Subjects: 0106 biological sciences, [SDV]Life Sciences [q-bio], ADN, Pes corporal, Molecular phylogeny, insular evolution, 010603 evolutionary biology, 01 natural sciences, Rodents, Gigantism, Filogènia, Evolution (Biology), 03 medical and health sciences, Animals, gigantism, ancient DNA, Research Articles, Phylogeny, molecular phylogeny, 030304 developmental biology, Islands, 0303 health sciences, Evolutionary Biology, Ancient DNA, DNA, Body weight, Agricultural and Biological Sciences (miscellaneous), Rosegadors, body mass, Rats, Insular evolution, Body mass, Spain, rodents, General Agricultural and Biological Sciences, Evolució (Biologia)
Abstract: Evolution of vertebrate endemics in oceanic islands follows a predictable pattern, known as the island rule, according to which gigantism arises in originally small-sized species and dwarfism in large ones. Species of extinct insular giant rodents are known from all over the world. In the Canary Islands, two examples of giant rats, †Canariomys bravoi and †Canariomys tamarani, endemic to Tenerife and Gran Canaria, respectively, disappeared soon after human settlement. The highly derived morphological features of these insular endemic rodents hamper the reconstruction of their evolutionary histories. We have retrieved partial nuclear and mitochondrial data from †C. bravoi and used this information to explore its evolutionary affinities. The resulting dated phylogeny confidently places †C. bravoi within the African grass rat clade (Arvicanthis niloticus). The estimated divergence time, 650 000 years ago (95% higher posterior densities: 373 000-944 000), points toward an island colonization during the Günz-Mindel interglacial stage. †Canariomys bravoi ancestors would have reached the island via passive rafting and then underwent a yearly increase of mean body mass calculated between 0.0015 g and 0.0023 g; this corresponds to fast evolutionary rates (in darwins (d), ranging from 7.09 d to 2.78 d) that are well above those observed for non-insular mammals., For technical support, we thank the research service facilities of IJC and IGTP, the Crystallization Facility of the Max Planck Institute of Biochemistry, the ICTS NMR facility from the Scientific and Technological Centres of the University of Barcelona and Biophysics Core Facility of BMC-LMU. I.G. was a fellow of the Marie Skłodowska Curie Training network ‘ChroMe’ (H2020-MSCA-ITN-2015-675610, awarded to M.B. and A.G.L.). The project was further supported by national grants (nos. RTI2018-094005-B-I00 and BFU2015-66559-P from FEDER/Ministerio de Ciencia e Innovación—Agencia Estatal de Investigación to M.B.). Research in the participating labs was further supported by the following grants: the Marie Skłodowska Curie Training network ‘INTERCEPT-MDS’ no. H2020-MSCA-ITN-2020-953407 (to M.B.), MINECO-ISCIII no. PIE16/00011 (to M.B.); the Deutsche José Carreras Leukämie Stiftung DJCLS (no. 14R/2018 to M.B.), AGAUR (no. 2017-SGR-305 to M.B.), Fundació La Marató de TV3 (no. 257/C/2019 to M.B.), German Research Foundation Project (ID 213249687—SFB 1064 and Project ID 325871075—SFB 1309 to A.G.L.), the Spanish Ministry of Science (PID2019-110183RB-C21 to A.R.M.), Community of Madrid (P2018/BAA-4343-ALIBIRD2020-CM to A.R.M), Ramón Areces Foundation (to A.R.M.), National Science Foundation (EF-1921402 to J.M.E.L.), 2015 International Doctoral Fellowship La Caixa-Severo Ochoa (to M.F.V.), Marie Skłodowska-Curie Individual Fellowship (no. 747789 to M.M.L.), Juan de la Cierva-Incorporación (IJC2018-036657-I to M.M.L., ERC-2012-CoG-616960 to I.R.T.), MINECO (BFU2017-90114-P to I.R.T.), AGAUR (2017-SGR-324 to X.S.) and MINECO (BIO2015-70092-R and ERC-2014-CoG-648201 to X.S.). Research at the IJC is supported by the ‘La Caixa’ Foundation, Fundació Internacional Josep Carreras, Celgene Spain and the CERCA Programme/Generalitat de Catalunya.
Published: 2021

10. STAG2 loss-of-function affects short-range genomic contacts and modulates the basal-luminal transcriptional program of bladder cancer cells

Author: Yasmina Cuartero, Alfonso Valencia, F. Radvanyi, Vera Pancaldi, Marc A. Marti-Renom, Miguel Madrid-Mencía, Enrique Carrillo-de-Santa Pau, Francisco X. Real, François Serra, Juan Antonio Rodríguez, Eleonora Lapi, Hélène Neyret-Kahn, François Le Dily, Mirabai Cuenca-Ardura, Laia Richart, Asociación Española Contra el Cáncer, Institut National de la Santé et de la Recherche Médicale (Francia), Fondation Toulouse Cancer Sante, Ministerio de Ciencia, Innovación y Universidades (España), Institució Catalana de Recerca i Estudis Avançats, Government of Catalonia (España), Unión Europea. Comisión Europea, Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Barcelona Supercomputing Center, Spanish National Cancer Research Center (CNIO), Centre de Recherches en Cancérologie de Toulouse (CRCT), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Barcelona Supercomputing Center - Centro Nacional de Supercomputacion (BSC - CNS), Biologie Cellulaire et Cancer, Institut Curie [Paris]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Barcelona Institute of Science and Technology (BIST), Institució Catalana de Recerca i Estudis Avançats (ICREA), Universitat Pompeu Fabra [Barcelona] (UPF), and Centro de Investigación Biomédica en Red de Cáncer (CIBERONC)
Subjects: Transcription, Genetic, AcademicSubjects/SCI00010, STAG2, Chromosomal Proteins, Non-Histone, [SDV]Life Sciences [q-bio], STAG1, Cell Cycle Proteins, medicine.disease_cause, Genomic distribution, Histones, 0302 clinical medicine, DOMAIN, Loss of Function Mutation, ELEMENTS, RNA, Small Interfering, Càncer -- Aspectes genètics, Regulation of gene expression, 0303 health sciences, Gene knockdown, Nuclear Proteins, DNA, Neoplasm, Chromatin, 3. Good health, Cell biology, Gene Expression Regulation, Neoplastic, Bladder cancer cells, 030220 oncology & carcinogenesis, Epigenetics, INACTIVATION, Signal Transduction, Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC], GENES, Biology, 03 medical and health sciences, Cell Line, Tumor, REVEALS, Genetics, medicine, Humans, Urothelium, Gene, Loss function, 030304 developmental biology, Cohesin, Base Sequence, MUTATIONS, ANEUPLOIDY, COHESIN COMPLEX, Gene Expression Profiling, Gene regulation, Chromatin and Epigenetics, COMPONENTS, Molecular Sequence Annotation, Gene regulation, Gene Ontology, HEK293 Cells, Urinary Bladder Neoplasms, Chromatin and epigenetics, PRINCIPLES, Bladder--Cancer--Genetic aspects, Carcinogenesis
Abstract: Cohesin exists in two variants containing STAG1 or STAG2. STAG2 is one of the most mutated genes in cancer and a major bladder tumor suppressor. Little is known about how its inactivation contributes to tumorigenesis. Here, we analyze the genomic distribution of STAG1 and STAG2 and perform STAG2 loss-of-function experiments using RT112 bladder cancer cells; we then analyze the genomic effects by integrating gene expression and chromatin interaction data. Functional compartmentalization exists between the cohesin complexes: cohesin-STAG2 displays a distinctive genomic distribution and mediates short and mid-ranged interactions that engage genes at higher frequency than those established by cohesin-STAG1. STAG2 knockdown results in down-regulation of the luminal urothelial signature and up-regulation of the basal transcriptional program, mirroring differences between STAG2-high and STAG2-low human bladder tumors. This is accompanied by rewiring of DNA contacts within topological domains, while compartments and domain boundaries remain refractive. Contacts lost upon depletion of STAG2 are assortative, preferentially occur within silent chromatin domains, and are associated with de-repression of lineage-specifying genes. Our findings indicate that STAG2 participates in the DNA looping that keeps the basal transcriptional program silent and thus sustains the luminal program. This mechanism may contribute to the tumor suppressor function of STAG2 in the urothelium. Fundación Científica de la Asociación Española Contra el Cáncer (to F.X.R., E.L., in part); V.P. is supported by INSERM, the Fondation Toulouse Cancer Santé and Pierre Fabre Research Institute as part of the Chair of Bioinformatics in Oncology of the CRCT; Bioinfo4women programme at the Barcelona Supercomputing Center; European Union's H2020 Framework Programme through the ERC [609989 to M.A.M.-R., in part]; Spanish Ministerio de Ciencia, Innovación y Universidades [BFU2017-85926-P to M.A.M.-R.]; C.N.I.O. is supported by Ministerio de Ciencia, Innovación y Universidades as a Centro de Excelencia Severo Ochoa [SEV-2015-0510]; C.R.G. acknowledges support from ‘Centro de Excelencia Severo Ochoa 2013–2017’ [SEV-2012-0208]; Spanish ministry of Science and Innovation to the EMBL partnership and the CERCA Programme/Generalitat de Catalunya (to C.R.G.); C.R.G. also acknowledges support of the Spanish Ministry of Science and Innovation through the Instituto de Salud Carlos III, the Generalitat de Catalunya through Departament de Salut and Departament d’Empresa i Coneixement; Spanish Ministry of Science and Innovation with funds from the European Regional Development Fund (ERDF) corresponding to the 2014–2020 Smart Growth Operating Program (to C.N.A.G.). Funding for open access charge: Own funds. Peer Reviewed "Article signat per 15 autors/es: Laia Richart, Eleonora Lapi, Vera Pancaldi, Mirabai Cuenca-Ardura, Enrique Carrillo-de-Santa Pau, Miguel Madrid-Mencía, Hélène Neyret-Kahn, François Radvanyi, Juan Antonio Rodríguez, Yasmina Cuartero, François Serra, François Le Dily, Alfonso Valencia, Marc A Marti-Renom, Francisco X Real "
Published: 2021

11. Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene

Author: Sian Ellard, Jorge Ferrer, Javier García-Hurtado, Sarah E. Flanagan, Philippe Ravassard, Miguel A. Maestro, Elisa De Franco, Ildem Akerman, Gerhard Mittler, Andrew T. Hattersley, Lorenzo Piemonti, Vanessa Grau, University of Birmingham [Birmingham], Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), University of Exeter Medical School, University of Exeter, Max Planck Institute of Immunobiology and Epigenetics (MPI-IE), Max-Planck-Gesellschaft, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), IRCCS Ospedale San Raffaele [Milan, Italy], Gestionnaire, Hal Sorbonne Université, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Akerman, I., Maestro, M. A., De Franco, E., Grau, V., Flanagan, S., Garcia-Hurtado, J., Mittler, G., Ravassard, P., Piemonti, L., Ellard, S., Hattersley, A. T., Ferrer, J., and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
Subjects: 0301 basic medicine, Transcription, Genetic, [SDV]Life Sciences [q-bio], Endocrinology, Diabetes and Metabolism, medicine.disease_cause, Sulfonylurea Receptors, Bioinformatics, Infant, Newborn, Diseases, Mice, 0302 clinical medicine, Endocrinology, Transcription (biology), Insulina, Human insulin, Insulin, Protein Isoforms, Medicine, Biology (General), Promoter Regions, Genetic, health care economics and organizations, Genetics, Mutation, GLIS3, Diabetis, Gene Expression Regulation, Developmental, Chromatin, 3. Good health, Cell biology, [SDV] Life Sciences [q-bio], DNA-Binding Proteins, neonatal diabetes, QH301-705.5, Neonatal diabetes, mouse model, education, MEDLINE, Mice, Transgenic, Biology, General Biochemistry, Genetics and Molecular Biology, Article, Gene product, 03 medical and health sciences, Text mining, Diabetes Mellitus, Animals, Humans, Point Mutation, Transcription factor, Pancreas, Gene, Alleles, regulatory element, HIP, INS promoter, business.industry, Point mutation, Infants nadons -- Malalties, Infant, Newborn, Embryo, Mammalian, Noncoding DNA, Repressor Proteins, 030104 developmental biology, Trans-Activators, business, 030217 neurology & neurosurgery, Function (biology), Genètica
Abstract: Summary Despite the central role of chromosomal context in gene transcription, human noncoding DNA variants are generally studied outside of their genomic location. This limits our understanding of disease-causing regulatory variants. INS promoter mutations cause recessive neonatal diabetes. We show that all INS promoter point mutations in 60 patients disrupt a CC dinucleotide, whereas none affect other elements important for episomal promoter function. To model CC mutations, we humanized an ∼3.1-kb region of the mouse Ins2 gene. This recapitulated developmental chromatin states and cell-specific transcription. A CC mutant allele, however, abrogated active chromatin formation during pancreas development. A search for transcription factors acting through this element revealed that another neonatal diabetes gene product, GLIS3, has a pioneer-like ability to derepress INS chromatin, which is hampered by the CC mutation. Our in vivo analysis, therefore, connects two human genetic defects in an essential mechanism for developmental activation of the INS gene., Graphical abstract, Highlights • Mutations of a CC dinucleotide in the human INS promoter cause neonatal diabetes • We humanized ∼3.1 kb of mouse Ins2 and created a CC mutant version • Humanized Ins2, but not the CC mutant, recapitulates developmental chromatin activation • GLIS3, also mutated in diabetes, activates INS chromatin and requires an intact CC, Mutations in the CC element of the INS promoter or the transcription factor GLIS3 cause neonatal diabetes. Akerman et al. humanize a 3.1-kb region upstream of the mouse Ins2 gene and show that GLIS3 and the CC element form a pioneering mechanism that activates INS chromatin during pancreas development.
Published: 2021

12. The abundance of the long intergenic non-coding RNA 01087 differentiates between luminal and triple-negative breast cancers and predicts patient outcome

Author: Cecilia C. Klein, Guido Kroemer, Valentina Del Monaco, Maria Chiara Maiuri, Alfonso Baldi, Margerie Kremer, Massimiliano D’Aiuto, Gautier Stoll, Gerardo Botti, Donatella Montanaro, Francesco Salvatore, Fatima Domenica Elisa De Palma, Barbara Uszczynska-Ratajczak, Valeria D'Argenio, Roderic Guigó, Anna Vlasova, Jonathan Pol, CEINGE - Biotecnologie Avanzate, Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Institut Gustave Roussy (IGR), Research Institute of Molecular Pathology (IMP), IFO - Istituto Nazionale Tumori Regina Elena [Roma] (IRE), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Gestionnaire, HAL Sorbonne Université 5, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP), De Palma, F. D. E., Del Monaco, V., Pol, J. G., Kremer, M., D'Argenio, V., Stoll, G., Montanaro, D., Uszczynska-Ratajczak, B., Klein, C. C., Vlasova, A., Botti, G., D'Aiuto, M., Baldi, A., Guigo, R., Kroemer, G., Maiuri, M. C., and Salvatore, F.
Subjects: 0301 basic medicine, Time Factors, LINC01087, Breast Neoplasms, Triple Negative Breast Neoplasms, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Luminal breast cancer, Triple-negative breast cancer, [SDV.CAN] Life Sciences [q-bio]/Cancer, Biomarkers, Tumor, medicine, Humans, Gene Regulatory Networks, Protein Interaction Maps, Neoplasm Metastasis, Pharmacology, Gene Expression Profiling, RNA, Cancer, Biomarker, medicine.disease, Non-coding RNA, Progression-Free Survival, Long non-coding RNA, 3. Good health, Gene Expression Regulation, Neoplastic, 030104 developmental biology, 030220 oncology & carcinogenesis, MCF-7 Cells, Cancer research, Biomarker (medicine), Female, RNA, Long Noncoding, Neoplasm Recurrence, Local, Transcriptome, Carcinogenesis, Signal Transduction
Abstract: International audience; The molecular complexity of human breast cancer (BC) renders the clinical management of the disease challenging. Long non-coding RNAs (lncRNAs) are promising biomarkers for BC patient stratification, early detection, and disease monitoring. Here, we identified the involvement of the long intergenic non-coding RNA 01087 (LINC01087) in breast oncogenesis. LINC01087 appeared significantly downregulated in triple-negative BCs (TNBCs) and upregulated in the luminal BC subtypes in comparison to mammary samples from cancer-free women and matched normal cancer pairs. Interestingly, deregulation of LINC01087 allowed to accurately distinguish between luminal and TNBC specimens, independently of the clinicopathological parameters, and of the histological and TP53 or BRCA1/2 mutational status. Moreover, increased expression of LINC01087 predicted a better prognosis in luminal BCs, while TNBC tumors that harbored lower levels of LINC01087 were associated with reduced relapse-free survival. Furthermore, bioinformatics analyses were performed on TNBC and luminal BC samples and suggested that the putative tumor suppressor activity of LINC01087 may rely on interferences with pathways involved in cell survival, proliferation, adhesion, invasion, inflammation and drug sensitivity. Altogether, these data suggest that the assessment of LINC01087 deregulation could represent a novel, specific and promising biomarker not only for the diagnosis and prognosis of luminal BC subtypes and TNBCs, but also as a predictive biomarker of pharmacological interventions.
Published: 2020

13. A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Author: Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Rheinard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle, Atalaia, Antonio [0000-0002-9345-0953], Apollo - University of Cambridge Repository, Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), CIC Pitié BT, Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Barcelona Institute of Science and Technology (BIST), Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), The Jackson Laboratory [Bar Harbor] (JAX), Vall d'Hebron University Hospital [Barcelona], Vall d’Hebron Research Institute (VHIR), University of Cambridge [UK] (CAM), University of Bari Aldo Moro (UNIBA), Universität zu Lübeck [Lübeck], Hertie Institute for Clinical Brain Research [Tubingen], University of Tübingen, German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Centre de référence des maladies rares neuromusculaires, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Cambridge University Hospitals - NHS (CUH), University of Freiburg [Freiburg], The Ottawa Hospital, University of Ottawa [Ottawa], Schon, Katherine [0000-0001-8054-8954], Horvath, Rita [0000-0002-9841-170X], Chinnery, Patrick [0000-0002-7065-6617], Centre d'investigation clinique Biothérapie [CHU Pitié-Salpêtrière] (CIC-BTi), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Università degli studi di Bari Aldo Moro = University of Bari Aldo Moro (UNIBA), Universität zu Lübeck = University of Lübeck [Lübeck], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Centre de Recherche en Myologie
Subjects: Treatment knowledge-base, Writing, [SDV]Life Sciences [q-bio], Research, genetics [Rare Diseases], lcsh:R, lcsh:Medicine, Systematic literature reviews, Rare diseases, therapy [Rare Diseases], Research Design, Humans, ddc:610, Other, Data Management, Systematic Reviews as Topic
Abstract: International audience; Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years for one. It is essential to raise awareness of patients and clinicians of existing gene and variant-specific therapeutics at the time of diagnosis to avoid that treatment delays add up to the diagnostic odyssey of rare diseases' patients and their families.Aims: This paper aims to provide guidance and give detailed instructions on how to write homogeneous systematic reviews of rare diseases' treatments in a manner that allows the capture of the results in a computer-accessible form. The published results need to comply with the FAIR guiding principles for scientific data management and stewardship to facilitate the extraction of datasets that are easily transposable into machine-actionable information. The ultimate purpose is the creation of a database of rare disease treatments ("Treatabolome") at gene and variant levels as part of the H2020 research project Solve-RD.Results: Each systematic review follows a written protocol to address one or more rare diseases in which the authors are experts. The bibliographic search strategy requires detailed documentation to allow its replication. Data capture forms should be built to facilitate the filling of a data capture spreadsheet and to record the application of the inclusion and exclusion criteria to each search result. A PRISMA flowchart is required to provide an overview of the processes of search and selection of papers. A separate table condenses the data collected during the Systematic Review, appraised according to their level of evidence.Conclusions: This paper provides a template that includes the instructions for writing FAIR-compliant systematic reviews of rare diseases' treatments that enables the assembly of a Treatabolome database that complement existing diagnostic and management support tools with treatment awareness data.
Published: 2020

14. Selection following Gene Duplication Shapes Recent Genome Evolution in the Pea Aphid Acyrthosiphon pisum

Author: Valentin Wucher, Rosa Fernández, Cinta Pegueroles, Stéphanie Robin, Fabrice Legeai, Gautier Richard, Marina Marcet-Houben, Toni Gabaldón, Denis Tagu, Ministerio de Economía y Competitividad (España), European Commission, Generalitat de Catalunya, Institut National de la Recherche Agronomique (France), Beijing Genomics Institute, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Institut de Génétique, Environnement et Protection des Plantes (IGEPP), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-AGROCAMPUS OUEST, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Scalable, Optimized and Parallel Algorithms for Genomics (GenScale), Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-GESTION DES DONNÉES ET DE LA CONNAISSANCE (IRISA-D7), Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National de Recherche en Informatique et en Automatique (Inria)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-CentraleSupélec-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Plateforme bioinformatique GenOuest [Rennes], Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Plateforme Génomique Santé Biogenouest®-Inria Rennes – Bretagne Atlantique, Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-CentraleSupélec-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Centro de Regulación Genómica (CRG), Universitat Pompeu Fabra [Barcelona] (UPF), Juan de la Cierva-Incorporación Fellowship, IJCI-2015-26627, Government of Spain, Spanish Ministry of Economy, Industry, and Competitiveness, Université de Rennes (UR)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-INSTITUT AGRO Agrocampus Ouest, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Université de Rennes (UR)-Plateforme Génomique Santé Biogenouest®-Inria Rennes – Bretagne Atlantique, Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), and Barcelona Supercomputing Center
Subjects: Genome, Insect, ADN, Gene duplicates, Gene Expression, AcademicSubjects/SCI01180, Gens -- Mapatge, 0302 clinical medicine, Gene Duplication, Phylogenomics, Gene duplication, 2. Zero hunger, 0303 health sciences, biology, 030302 biochemistry & molecular biology, food and beverages, Biological Evolution, Positive selection, Neofunctionalization, Genoma -- Evolució, Duplicació cromosòmica, Data sets, Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC], Genome evolution, 03 medical and health sciences, DNA Packaging, Genetics, Animals, Selection, Genetic, Molecular Biology, Gene, Discoveries, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Comparative genomics, Phenotypic plasticity, FAIRE-Seq, AcademicSubjects/SCI01130, Pugons, biology.organism_classification, Acyrthosiphon pisum, Insectes, Evolutionary biology, Aphids, Adaptation, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], Insect, 030217 neurology & neurosurgery, Genètica
Abstract: Ecology of insects is as wide as their diversity, which reflects their high capacity of adaptation in most of the environments of our planet. Aphids, with over 4,000 species, have developed a series of adaptations including a high phenotypic plasticity and the ability to feed on the phloem sap of plants, which is enriched in sugars derived from photosynthesis. Recent analyses of aphid genomes have indicated a high level of shared ancestral gene duplications that might represent a basis for genetic innovation and broad adaptations. In addition, there are a large number of recent, species-specific gene duplications whose role in adaptation remains poorly understood. Here, we tested whether duplicates specific to the pea aphid Acyrthosiphon pisum are related to genomic innovation by combining comparative genomics, transcriptomics, and chromatin accessibility analyses. Consistent with large levels of neofunctionalization, we found that most of the recent pairs of gene duplicates evolved asymmetrically, showing divergent patterns of positive selection and gene expression. Genes under selection involved a plethora of biological functions, suggesting that neofunctionalization and tissue specificity, among other evolutionary mechanisms, have orchestrated the evolution of recent paralogs in the pea aphid and may have facilitated host-symbiont cooperation. Our comprehensive phylogenomics analysis allowed us to tackle the history of duplicated genes to pave the road toward understanding the role of gene duplication in ecological adaptation., R.F. was funded by a Juan de la Cierva-Incorporacion Fellowship (Government of Spain, IJCI-2015-26627) and a Marie Skłodowska-Curie Fellowship (747607). T.G. acknowledges support from the Spanish Ministry of Economy, Industry, and Competitiveness (MEIC) for the EMBL partnership, and grants “Centro de Excelencia Severo Ochoa 2013– 2017” SEV-2012-0208, and BFU2015-67107 cofunded by European Regional Development Fund (ERDF); from the CERCA Programme/Generalitat de Catalunya; from the Catalan Research Agency (AGAUR) SGR857, and grant from the European Union’s Horizon 2020 research and innovation program under the grant agreement ERC-2016-724173 and the Marie Sklodowska-Curie (Grant Agreement No. H2020-MSCA-ITN-2014-642095). D.T. was funded by “Severo Ochoa visiting scientific program” for a 6 months stay at the Center for Genomic Regulation—Barcelona—to start the project, supported as well by INRA SPE. Dr Roderic Guigo (CRG, Barcelona) is warmly acknowledged for his welcome in his lab. Dr Akiko Sugio, Dr Julie Jaquiery, Dr Ga€el Le Trionnaire, and Dr Jean-Christophe Simon (INRAE, UMR 1349 Igepp, Rennes, France) are acknowledged for access to unpublished data of RNA-Seq. Daktulosphaira vitifoliae data were provided by the Phylloxera Genome Project (https://bipaa. genouest.org/is/aphidbase/): funding for D. vitifoliae clone Pcf genomic sequencing was provided by INRA (AIP Bioresources) and BGI Biotech in the frame of i5k initiative. Parts of the transcriptomic resources were obtained within the 1KITE projects (Bernhard Misof, Bonn, Germany). The Acyrthosiphon pisum phylome can be accessed at PhylomeDB 4.0 under phylome number 441. RNA-Seq data are accessible at NCBI, see supplementary table S2, Supplementary Material online.
Published: 2020

15. A mathematical model of p62-ubiquitin aggregates in autophagy

Author: Julia Delacour, Marie Doumic, Sascha Martens, Christian Schmeiser, Gabriele Zaffagnini, Modelling and Analysis for Medical and Biological Applications (MAMBA), Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire Jacques-Louis Lions (LJLL (UMR_7598)), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), University of Vienna [Vienna], Max Perutz Labs, Fakultät für Mathematik [Wien], Universität Wien, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), This work has been supported by the PhD program Signalling Mechanisms in Cellular Autophagy,funded by the Austrian Science Fund (FWF), project no. W1261. CS acknowledges support by FWF, grant nos. W1245 and SFB65. MD and JD have been partially supported by the ERC Starting Grant SKIPPERAD (number 306321)., European Project: 306321,EC:FP7:ERC,ERC-2012-StG_20111012,SKIPPERAD(2012), and Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)
Subjects: 0303 health sciences, Statistical Mechanics (cond-mat.stat-mech), Ubiquitin, Applied Mathematics, Proteins, FOS: Physical sciences, Biomolecules (q-bio.BM), Models, Theoretical, Agricultural and Biological Sciences (miscellaneous), Article, 92C40 Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Quantitative Biology - Biomolecules, 92C40, Modeling and Simulation, FOS: Biological sciences, Sequestosome-1 Protein, Autophagy, molecular biology, [MATH]Mathematics [math], Condensed Matter - Statistical Mechanics, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract: Aggregation of ubiquitinated cargo by oligomers of the protein p62 is an important preparatory step in cellular autophagy. In this work a mathematical model for the dynamics of these heterogeneous aggregates in the form of a system of ordinary differential equations is derived and analyzed. Three different parameter regimes are identified, where either aggregates are unstable, or their size saturates at a finite value, or their size grows indefinitely as long as free particles are abundant. The boundaries of these regimes as well as the finite size in the second case can be computed explicitly. The growth in the third case (quadratic in time) can also be made explicit by formal asymptotic methods. In the absence of rigorous results the dynamic stability of these structures has been investigated by numerical simulations. A comparison with recent experimental results permits a partial parametrization of the model. This work has been supported by the PhD program Signalling Mechanisms in Cellular Autophagy, funded by the Austrian Science Fund (FWF), project no. W1261. CS also acknowledges support by FWF, Grant Nos. W1245 and SFB65. MD and JD have been partially supported by the ERC Starting Grant SKIPPERAD (Number 306321). MD thanks the Wolfgang Pauli Institute for the sabbatical stay in Vienna during which this work has been initiated.
Published: 2020
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16. The genome of Ectocarpus subulatus – A highly stress-tolerant brown alga

Author: Erwan Corre, Didier Jollivet, Xi Liu, Jonas Collén, Noé Pontoizeau, Thierry Tonon, Simon M. Dittami, Gabriel V. Markov, Alexandre Cormier, Dominique Marie, Hwan Su Yoon, Catherine Leblanc, Loraine Brillet-Guéguen, Camille Trottier, Akira F. Peters, André E. Minoche, Sylvie Doubleau, Komlan Avia, Misharl Monsoor, Amandine Siméon, Angélique Gobet, Hetty KleinJan, Catherine Boyen, Christophe Caron, Agnieszka P. Lipinska, Chung Hyun Cho, Clémence Frioux, Agnès Groisillier, Marie-Mathilde Perrineau, Pierre Pericard, Irene González-Navarrete, Heinz Himmelbauer, Cécile Hervé, Méziane Aite, Anne Siegel, Ludovic Delage, Laboratoire de Biologie Intégrative des Modèles Marins (LBI2M), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Station biologique de Roscoff (SBR), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Végétaux marins et biomolécules, Station biologique de Roscoff [Roscoff] (SBR), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-GOEMAR-Centre National de la Recherche Scientifique (CNRS), ABiMS - Informatique et bioinformatique = Analysis and Bioinformatics for Marine Science (FR2424), Station biologique de Roscoff (SBR), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Dynamics, Logics and Inference for biological Systems and Sequences (Dyliss), Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-GESTION DES DONNÉES ET DE LA CONNAISSANCE (IRISA-D7), Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Bretagne Sud (UBS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Université de Rennes (UNIV-RENNES)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Rennes (UNIV-RENNES)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Rennes (ENS Rennes)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Université de Rennes (UNIV-RENNES), Santé de la vigne et qualité du vin (SVQV), Institut National de la Recherche Agronomique (INRA)-Université de Strasbourg (UNISTRA), Unité Mathématique Informatique et Génome (MIG), Institut National de la Recherche Agronomique (INRA), Diversité, adaptation, développement des plantes (UMR DIADE), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), from patterns to models in computational biodiversity and biotechnology (PLEIADE), Laboratoire Bordelais de Recherche en Informatique (LaBRI), Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Université Sciences et Technologies - Bordeaux 1-Université Bordeaux Segalen - Bordeaux 2-Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Université Sciences et Technologies - Bordeaux 1-Université Bordeaux Segalen - Bordeaux 2-Inria Bordeaux - Sud-Ouest, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Biodiversité, Gènes & Communautés (BioGeCo), Université de Bordeaux (UB)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université de Bordeaux (UB)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Evolution des Protistes et Ecosystèmes Pélagiques (EPEP), Adaptation et diversité en milieu marin (AD2M), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Station biologique de Roscoff [Roscoff] (SBR), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona]-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Tereos, ECOlogy of MArine Plankton (ECOMAP), Centre National de la Recherche Scientifique (CNRS)-Station biologique de Roscoff (SBR), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Station biologique de Roscoff (SBR), Institut de Génomique Fonctionnelle de Lyon (IGFL), École normale supérieure - Lyon (ENS Lyon)-Institut National de la Recherche Agronomique (INRA)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Centre de Recherche en Informatique, Signal et Automatique de Lille (CRIStAL) - UMR 9189 (CRIStAL), Ecole Centrale de Lille-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Laboratoire des symbioses tropicales et méditerranéennes (UMR LSTM), Université Montpellier 1 (UM1)-Institut de Recherche pour le Développement (IRD)-Institut National de la Recherche Agronomique (INRA)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro)-Université de Montpellier (UM)-Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Université Montpellier 2 - Sciences et Techniques (UM2), University of Aberdeen, Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Station biologique de Roscoff [Roscoff] (SBR), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), DMAS, ONERA, Université Paris Saclay [Châtillon], ONERA-Université Paris-Saclay, Sung Kyun Kwan University, Max-Planck-Institut für Molekulare Genetik (MPIMG), Max-Planck-Gesellschaft, ABiMS - Informatique et bioinformatique = Analysis and Bioinformatics for Marine Science (ABIMS), Fédération de recherche de Roscoff (FR2424), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Station biologique de Roscoff (SBR), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Sungkyunkwan University [Suwon] (SKKU), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Key Laboratory of Intelligent Information Processing, Institute of Computing Technology [Beijing], Chinese Academy of Sciences [Changchun Branch] (CAS), Bezhin Rosko, Université de Rennes (UR), Université de Strasbourg (UNISTRA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université de Bordeaux (UB)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Centre National de la Recherche Scientifique (CNRS)-Inria Bordeaux - Sud-Ouest, Université de Bordeaux (UB)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Adaptation et diversité en milieu marin (ADMM), Institut national des sciences de l'Univers (INSU - CNRS)-Station biologique de Roscoff (SBR), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut national des sciences de l'Univers (INSU - CNRS)-Station biologique de Roscoff (SBR), Max Planck Institute for Molecular Genetics (MPIMG), University of York [York, UK], This work was funded partially by ANR project IDEALG (ANR-10-BTBR-04) 14'Investissements d’Avenir, Biotechnologies-Bioressources', the European Union’s Horizon 2020 research and innovation Programme under the Marie Sklodowska-Curie grant agreement number 624575 (ALFF), and the CNRS Momentum call. Sequencing was performed at the Genomics Unit of the Centre for Genomic Regulation (CRG), Barcelona, Spain, Institut de Recherche pour le Développement (IRD [France-Sud])-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Inria Bordeaux - Sud-Ouest, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes 1 (UR1), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National de Recherche en Informatique et en Automatique (Inria)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-CentraleSupélec-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Laboratoire de Biologie Intégrative des Modèles Marins [LBI2M], ABiMS - Informatique et bioinformatique = Analysis and Bioinformatics for Marine Science [ABIMS], Dynamics, Logics and Inference for biological Systems and Sequences [Dyliss], Santé de la vigne et qualité du vin [SVQV], Unité Mathématique Informatique et Génome [MIG], Diversité, adaptation, développement des plantes [UMR DIADE], from patterns to models in computational biodiversity and biotechnology [PLEIADE], Evolution des Protistes et Ecosystèmes Pélagiques [EPEP], Centre for Genomic Regulation [Barcelona] [CRG], ECOlogy of MArine Plankton [ECOMAP], Institut de Génomique Fonctionnelle de Lyon [IGFL], Centre de Recherche en Informatique, Signal et Automatique de Lille - UMR 9189 [CRIStAL], Laboratoire des symbioses tropicales et méditerranéennes [UMR LSTM], DMAS, ONERA, Université Paris Saclay (COmUE) [Châtillon], and Max-Planck-Institut für Molekulare Genetik [MPIMG]
Subjects: 0106 biological sciences, Victoria, Retrotransposon, Aquatic Science, Biology, Phaeophyta, 010603 evolutionary biology, 01 natural sciences, Genome, [SDV.GEN.GPL]Life Sciences [q-bio]/Genetics/Plants genetics, 03 medical and health sciences, Stress, Physiological, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Genetics, Gene family, [SDV.BV]Life Sciences [q-bio]/Vegetal Biology, Gene, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, Abiotic stress, Algal Proteins, Ectocarpus, biology.organism_classification, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Brown algae, Multicellular organism, Multigene Family, [SDE.BE]Environmental Sciences/Biodiversity and Ecology, Metabolic Networks and Pathways, 010606 plant biology & botany
Abstract: Brown algae are multicellular photosynthetic stramenopiles that colonize marine rocky shores worldwide. Ectocarpus sp. Ec32 has been established as a genomic model for brown algae. Here we present the genome and metabolic network of the closely related species, Ectocarpus subulatus Kützing, which is characterized by high abiotic stress tolerance. Since their separation, both strains show new traces of viral sequences and the activity of large retrotransposons, which may also be related to the expansion of a family of chlorophyll-binding proteins. Further features suspected to contribute to stress tolerance include an expanded family of heat shock proteins, the reduction of genes involved in the production of halogenated defence compounds, and the presence of fewer cell wall polysaccharide-modifying enzymes. Overall, E. subulatus has mainly lost members of gene families down-regulated in low salinities, and conserved those that were up-regulated in the same condition. However, 96% of genes that differed between the two examined Ectocarpus species, as well as all genes under positive selection, were found to encode proteins of unknown function. This underlines the uniqueness of brown algal stress tolerance mechanisms as well as the significance of establishing E. subulatus as a comparative model for future functional studies.
Published: 2020

17. The senotherapeutic drug ABT-737 disrupts aberrant p21 expression to restore liver regeneration in adult mice

Author: Matej Durik, Umberto Di Vicino, William M. Keyes, Alba Mas, Elisa Pedone, Tania Knauer-Meyer, Birgit Ritschka, Hugues Jacobs, Maria Pia Cosma, Daniel Sampaio Gonçalves, Jean-Luc Plassat, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Strasbourg (UNISTRA), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Research Institute of Molecular Pathology (IMP), Universitat Pompeu Fabra [Barcelona] (UPF), ICREA Infection Biology Laboratory (Department of Experimental and Health Sciences), Work in the Keyes lab was funded in part by grants from the Spanish Ministry for Economy and Competitiveness (SAF2013-49082-P), La Fondation Recherche Medicale (FRM) (AJE20160635985), Fondation ARC (PJA20181208104), IDEX Attractivité-University of Strasbourg (IDEX2017), and La Fondation Schlumberger pour l’Education et la Recherche (FSER) (FSER 19-Year 2018). We acknowledge the support of the Spanish Ministry of Science and Innovation to the EMBL partnership, the Centro de Excelencia Severo Ochoa and the CERCA Programme/Generalitat de Catalunya., ANR-19-CE13-0023,SENAGE,La sénescence: une clef pour vieillir en bonne santé(2019), ANR-10-LABX-0030,INRT,Integrative Biology : Nuclear dynamics- Regenerative medicine - Translational medicine(2010), ANR-10-IDEX-0002,UNISTRA,Par-delà les frontières, l'Université de Strasbourg(2010), Keyes, Bill, La sénescence: une clef pour vieillir en bonne santé - - SENAGE2019 - ANR-19-CE13-0023 - AAPG2019 - VALID, Integrative Biology : Nuclear dynamics- Regenerative medicine - Translational medicine - - INRT2010 - ANR-10-LABX-0030 - LABX - VALID, and Initiative d'excellence - Par-delà les frontières, l'Université de Strasbourg - - UNISTRA2010 - ANR-10-IDEX-0002 - IDEX - VALID
Subjects: Male, senescence, [SDV]Life Sciences [q-bio], Piperazines, senolytic, Nitrophenols, Mice, 0302 clinical medicine, Senilítics, liver regeneration, Fetge -- Regeneració, Cells, Cultured, Cellular Senescence, Regulation of gene expression, Sulfonamides, 0303 health sciences, p16Ink4a, p21, Liver regeneration, Cell biology, [SDV] Life Sciences [q-bio], Biphenyl compound, medicine.anatomical_structure, Liver, 030220 oncology & carcinogenesis, Hepatocyte, Models, Animal, Female, Cyclin-Dependent Kinase Inhibitor p21, Senescence, Cell type, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, Cèl·lules hepàtiques, 03 medical and health sciences, Envelliment, hepatocyte, Genetics, medicine, Animals, Regeneration, Senolytic, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Cyclin-Dependent Kinase Inhibitor p16, 030304 developmental biology, ABT-737, Regeneration (biology), Biphenyl Compounds, aging, Mice, Inbred C57BL, Gene Expression Regulation, Outlook, Developmental Biology
Abstract: Young mammals possess a limited regenerative capacity in some tissues, which is lost upon maturation. We investigated whether cellular senescence might play a role in such loss during liver regeneration. We found that following partial hepatectomy, the senescence-associated genes p21, p16Ink4a, and p19Arf become dynamically expressed in different cell types when regenerative capacity decreases, but without a full senescent response. However, we show that treatment with a senescence-inhibiting drug improves regeneration, by disrupting aberrantly prolonged p21 expression. This work suggests that senescence may initially develop from heterogeneous cellular responses, and that senotherapeutic drugs might be useful in promoting organ regeneration. Work in the Keyes lab was funded in part by grants from the Spanish Ministry for Economy and Competitiveness (SAF2013-49082-P), La Fondation Recherche Medicale (FRM) (AJE20160635985), Fondation ARC (PJA20181208104), IDEX Attractivité-University of Strasbourg (IDEX2017), and La Fondation Schlumberger pour l'Education et la Recherche (FSER) (FSER 19-Year 2018), and ANR (ANR-19-CE13-0023-03). Work was also supported by grant ANR-10-LABX-0030-INRT, a French State fund managed by the Agence Nationale de la Recherche under the frame program Investissements d'Avenir (ANR-10-IDEX-0002-02)
Published: 2020

18. The genome sequence of the grape phylloxera provides insights into the evolution, adaptation, and invasion routes of an iconic pest

Author: Ying Zhang, Pascale Roux, Alex C.C. Wilson, Celeste R. Banfill, Roderic Guigó, Ming Tang, Carole Vincent-Monégat, Denis Tagu, Claude Rispe, Yi Min Hsiao, Angela E. Douglas, Daciana Papura, Keith Dufault-Thompson, Frédérique Hilliou, Shanlin Liu, Astrid Forneck, Nicolas Montagné, Eric Lombaert, Fabrice Legeai, Julio Rozas, Gaël Le Trionnaire, Yvan Rahbé, Anthony Bretaudeau, Jing Zhao, Silvia Hinojosa-Alvarez, Maryem Bouallègue, Joshua Wemmer, Stéphanie Robin, Jose Francisco Sánchez-Herrero, Pierre Capy, Federica Calevro, Xin Zhou, David Martínez-Torres, Martine Maïbèche, Patrice Baa-Puyoulet, Marina Marcet-Houben, Gaëlle Le Goff, Aida Ripoll-Cladellas, Mélanie Ribeiro Lopes, Wenhua Tian, Hsiao-ling Lu, François Delmotte, Toni Gabaldón, Arinder K. Arora, Paul A Umina, Rémy Félix Serre, Spencer Johnston, Olivier Catrice, Céline Roques, Paul D. Nabity, Serena Zhao, Pablo Librado, Miquel Barberà, Thomas Chertemps, Emmanuelle Jacquin-Joly, Benjamin Joubard, Leticia Bao, Jennifer A. Brisson, Camille Meslin, Honglin Feng, Manuella van Munster, Paula Escuer, Edward B. James, Rosa Fernández, Chaoyang Zhao, Mohamed Makni, Sylvie Hudaverdian, Nancy A. Moran, Iris Scatoni, Nicolas Parisot, Carole Couture, Didac Santesmasses, Laurent Delière, Alejandro Sánchez-Gracia, Biologie, Epidémiologie et analyse de risque en Santé Animale (BIOEPAR), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut de Génétique, Environnement et Protection des Plantes (IGEPP), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-AGROCAMPUS OUEST, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Scalable, Optimized and Parallel Algorithms for Genomics (GenScale), Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-GESTION DES DONNÉES ET DE LA CONNAISSANCE (IRISA-D7), Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National de Recherche en Informatique et en Automatique (Inria)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-CentraleSupélec-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Department of Botany and Plant Sciences [Riverside], University of California [Riverside] (UCR), University of California-University of California, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Institut de Biologia Evolutiva [Barcelona] (IBE / UPF - CSIC), Universitat Pompeu Fabra [Barcelona] (UPF), Cornell University [New York], Biologie Fonctionnelle, Insectes et Interactions (BF2I), Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), University of Miami [Coral Gables], Universidad de la República (UDELAR), Universitat de València (UV), Faculté des Sciences Mathématiques, Physiques et Naturelles de Tunis (FST), Université de Tunis El Manar (UTM), University of Rochester [USA], Evolution, génomes, comportement et écologie (EGCE), Institut de Recherche pour le Développement (IRD)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Laboratoire des Interactions Plantes Microbes Environnement (LIPME), Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut d'écologie et des sciences de l'environnement de Paris (iEES Paris ), Institut de Recherche pour le Développement (IRD)-Sorbonne Université (SU)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Santé et agroécologie du vignoble (UMR SAVE), Université de Bordeaux (UB)-Institut des Sciences de la Vigne et du Vin (ISVV)-Ecole Nationale Supérieure des Sciences Agronomiques de Bordeaux-Aquitaine (Bordeaux Sciences Agro)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), University of Rhode Island (URI), Université de Barcelonne, Boyce Thompson Institute [Ithaca], Universität für Bodenkultur Wien [Vienne, Autriche] (BOKU), Center for Genomic Regulation (CRG-UPF), CIBER de Epidemiología y Salud Pública (CIBERESP), Institució Catalana de Recerca i Estudis Avançats (ICREA), Institut Sophia Agrobiotech (ISA), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Côte d'Azur (UCA), National Taiwan University [Taiwan] (NTU), Chang Gung Memorial Hospital [Taipei] (CGMH), Texas A&M University [College Station], Anthropologie Moléculaire et Imagerie de Synthèse (AMIS), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Beijing Genomics Institute [Shenzhen] (BGI), China Agricultural University (CAU), MingDao University (MDU), University of Texas at Austin [Austin], Trafic et signalisation membranaires chez les bactéries (MTSB), Microbiologie, adaptation et pathogénie (MAP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS), Biologie et Génétique des Interactions Plante-Parasite (UMR BGPI), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Sciences pour l'environnement (SPE), Centre National de la Recherche Scientifique (CNRS)-Université Pascal Paoli (UPP), Génome et Transcriptome - Plateforme Génomique ( GeT-PlaGe), Plateforme Génome & Transcriptome (GET), Génopole Toulouse Midi-Pyrénées [Auzeville] (GENOTOUL), Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Génopole Toulouse Midi-Pyrénées [Auzeville] (GENOTOUL), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Brigham & Women’s Hospital [Boston] (BWH), Harvard Medical School [Boston] (HMS), University of California, University of Melbourne, INRAE (France), Juan de la Cierva-Incorporacion Fellowship (Government of Spain) : IJCI-2015-26627, Marie Sklodowska-Curie Fellowship : 747607, US National Institute of Food and Agriculture : 12216941, University of Miami Maytag Fellowship from the Department of Biology, William H. Evoy Graduate Research Support Fund from the Department of Biology, Molecular Biosciences Graduate Research, Award from the Department of Biology, Springer Nature, European Project: 764840,IGNITE, École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université de Rennes (UR)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-INSTITUT AGRO Agrocampus Ouest, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), University of California [Riverside] (UC Riverside), University of California (UC)-University of California (UC), Department of Entomology [CALS], College of Agriculture and Life Sciences [Cornell University] (CALS), Cornell University [New York]-Cornell University [New York], Universidad de la República [Montevideo] (UDELAR), Institut de Recherche pour le Développement (IRD)-Sorbonne Université (SU)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Universitat de Barcelona (UB), Universität für Bodenkultur Wien = University of Natural Resources and Life [Vienne, Autriche] (BOKU), Université Nice Sophia Antipolis (1965 - 2019) (UNS), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut Agro - Montpellier SupAgro, Université Pascal Paoli (UPP)-Centre National de la Recherche Scientifique (CNRS), Université de Toulouse (UT)-Université de Toulouse (UT)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Génopole Toulouse Midi-Pyrénées [Auzeville] (GENOTOUL), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), University of California (UC), Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon, European Commission, Ministerio de Economía y Competitividad (España), National Institute of Food and Agriculture (US), Miami University, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-INSTITUT AGRO Agrocampus Ouest, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes 1 (UR1), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut de Recherche pour le Développement (IRD)-Sorbonne Université (SU)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPC)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Toulouse III - Paul Sabatier (UT3), Institut National de la Recherche Agronomique (INRA)-École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), and Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique)
Subjects: 0106 biological sciences, Fil·loxera, Physiology, [SDV]Life Sciences [q-bio], Introduced species, Plant Science, 01 natural sciences, Genome, Gene duplications, Structural Biology, Vitis, lcsh:QH301-705.5, ComputingMilieux_MISCELLANEOUS, 2. Zero hunger, 0303 health sciences, education.field_of_study, Host plant interactions, Endosymbiosis, biology, food and beverages, Biological Sciences, Biological Evolution, General Agricultural and Biological Sciences, Rootstock, Infection, Daktulosphaira vitifoliae, Biotechnology, Research Article, Population, 010603 evolutionary biology, General Biochemistry, Genetics and Molecular Biology, Hemiptera, 03 medical and health sciences, Genetics, Insect pests, Animals, Plagues d'insectes, Adaptation, Biological invasions, Genomes, education, Phylloxera, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Obligate, Human Genome, Viticultura, Cell Biology, 15. Life on land, biology.organism_classification, Biological, Effectors, Climate Action, lcsh:Biology (General), 13. Climate action, Evolutionary biology, Arthropod genomes, Introduced Species, Insect, Animal Distribution, Developmental Biology
Abstract: Background: Although native to North America, the invasion of the aphid-like grape phylloxera Daktulosphaira vitifoliae across the globe altered the course of grape cultivation. For the past 150 years, viticulture relied on grafting-resistant North American Vitis species as rootstocks, thereby limiting genetic stocks tolerant to other stressors such as pathogens and climate change. Limited understanding of the insect genetics resulted in successive outbreaks across the globe when rootstocks failed. Here we report the 294-Mb genome of D. vitifoliae as a basic tool to understand host plant manipulation, nutritional endosymbiosis, and enhance global viticulture. Results: Using a combination of genome, RNA, and population resequencing, we found grape phylloxera showed high duplication rates since its common ancestor with aphids, but similarity in most metabolic genes, despite lacking obligate nutritional symbioses and feeding from parenchyma. Similarly, no enrichment occurred in development genes in relation to viviparity. However, phylloxera evolved > 2700 unique genes that resemble putative effectors and are active during feeding. Population sequencing revealed the global invasion began from the upper Mississippi River in North America, spread to Europe and from there to the rest of the world. Conclusions: The grape phylloxera genome reveals genetic architecture relative to the evolution of nutritional endosymbiosis, viviparity, and herbivory. The extraordinary expansion in effector genes also suggests novel adaptations to plant feeding and how insects induce complex plant phenotypes, for instance galls. Finally, our understanding of the origin of this invasive species and its genome provide genetics resources to alleviate rootstock bottlenecks restricting the advancement of viticulture., This work has been funded by INRAE (France) and by the European Union’s Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie grant agreement no. 764840 for the ITN IGNITE project. Rosa Fernandez was funded by a Juan de la Cierva-Incorporación Fellowship (Government of Spain, IJCI-2015-26627) and a Marie Skłodowska-Curie Fellowship (747607). Angela Douglas was supported by the US National Institute of Food and Agriculture Grant 12216941. Honglin Feng was supported by a University of Miami Maytag Fellowship, William H. Evoy Graduate Research Support Fund, and a Molecular Biosciences Graduate Research Award from the Department of Biology.
Published: 2020

19. Impact of Chromosome Fusions on 3D Genome Organization and Gene Expression in Budding Yeast

Author: Marc A. Marti-Renom, Davide Baù, Manuel Mendoza, Francesca Di Giovanni, Vasilisa Pozharskaia, Mercè Gomar-Alba, Lucas B. Carey, Marco Di Stefano, Mendoza, Manuel, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Barcelona Institute of Science and Technology (BIST), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Peking University [Beijing], ICREA Infection Biology Laboratory (Department of Experimental and Health Sciences), Universitat Pompeu Fabra [Barcelona] (UPF), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)
Subjects: computational modeling, Nuclear Envelope, nuclear organization, [SDV]Life Sciences [q-bio], Molecular Conformation, Locus (genetics), Saccharomyces cerevisiae, Investigations, Biology, 03 medical and health sciences, 0302 clinical medicine, Cellular Genetics, Transcription (biology), Gene Expression Regulation, Fungal, Gene expression, Genetics, budding yeast, Chromosome Positioning, Genomes, Gene, 030304 developmental biology, Genomic organization, Cell Nucleus, 0303 health sciences, Chromosome, Telomere, Expressió gènica, Cromosomes, [SDV] Life Sciences [q-bio], gene expression, Chromosomes, Fungal, Genome, Fungal, Llevats, single-cell imaging, 030217 neurology & neurosurgery
Abstract: In eukaryotic cells, the spatial organization of genes within the nucleus is correlated with their expression. However, correlation is not causa-tion. To determine how nuclear spatial organization affects gene expression, Di Stefano et al. studied..., The three-dimensional (3D) organization of chromosomes can influence transcription. However, the frequency and magnitude of these effects remain debated. To determine how changes in chromosome positioning affect transcription across thousands of genes with minimal perturbation, we characterized nuclear organization and global gene expression in budding yeast containing chromosome fusions. We used computational modeling and single-cell imaging to determine chromosome positions, and integrated these data with genome-wide transcriptional profiles from RNA sequencing. We find that chromosome fusions dramatically alter 3D nuclear organization without leading to strong genome-wide changes in transcription. However, we observe a mild but significant and reproducible increase in the expression of genes displaced away from the periphery. The increase in transcription is inversely proportional to the propensity of a given locus to be at the nuclear periphery; for example, a 10% decrease in the propensity of a gene to reside at the nuclear envelope is accompanied by a 10% increase in gene expression. Modeling suggests that this is due to both deletion of telomeres and to displacement of genes relative to the nuclear periphery. These data suggest that basal transcriptional activity is sensitive to radial changes in gene position, and provide insight into the functional relevance of budding yeast chromosome-level 3D organization in gene expression.
Published: 2020

20. Wolpert's French Flag: what's the problem?

Author: Peaucelle, Alexis, Sharpe, James, Institut Jean-Pierre Bourgin (IJPB), AgroParisTech-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre for Genomic Regulation [Barcelona] (CRG), and Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG)
Subjects: Phrase, Metaphor, media_common.quotation_subject, Concept Formation, Color, Biology, History, 21st Century, Models, Biological, Key (music), 03 medical and health sciences, 0302 clinical medicine, Animals, Humans, Molecular Biology, [SDV.BDD]Life Sciences [q-bio]/Development Biology, 030304 developmental biology, media_common, Body Patterning, 0303 health sciences, Chemotaxis, Osmolar Concentration, History, 19th Century, [SDV.BDD.MOR]Life Sciences [q-bio]/Development Biology/Morphogenesis, History, 20th Century, Linguistics, Abstraction (mathematics), French flag model, France, Emblems and Insignia, 030217 neurology & neurosurgery, Flag (geometry), Developmental Biology
Abstract: Two phrases attributed to Lewis Wolpert – ‘positional information’ and ‘The French Flag Model’ – have become so intertwined that they are now used almost interchangeably. Here, I argue that this represents an unfortunate oversimplification of Wolpert's ideas that arose gradually in the developmental biology community, some significant time after his key papers were published. In contrast to common belief, Wolpert did not use the phrase French Flag ‘Model’ but instead introduced the French Flag ‘Problem’. This famous metaphor was not a proposal of how patterning works, but rather an abstraction of the question to be addressed. More specifically, the French flag metaphor was an attempt to de-couple the problem from the multiple possible models that could solve it. In this spirit, Wolpert's first article on this topic also proposed (in addition to the well-known gradient model) an alternative solution to the French Flag Problem that was self-organising and had no gradients, and in which each cell ‘cannot compute where it is in the system’, i.e. there is no positional information. I discuss the history and evolution of these terms, and how they influence the way we study patterning.
Published: 2019

21. Single-cell absolute contact probability detection reveals chromosomes are organized by multiple low-frequency yet specific interactions

Author: Cattoni, Diego, Gizzi, Andrés M Cardozo, Georgieva, Mariya, Di Stefano, Marco, Valeri, Alessandro, Chamousset, Delphine, Houbron, Christophe, Déjardin, Stephanie, Fiche, Jean-Bernard, González, Inma, Chang, Jia-Ming, Sexton, Thomas, Marti-Renom, Marc A, Bantignies, Frederic, Cavalli, Giacomo, Nollmann, Marcelo, Centre de Biochimie Structurale [Montpellier] (CBS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Universitat Pompeu Fabra [Barcelona] (UPF), Institució Catalana de Recerca i Estudis Avançats (ICREA), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Epigénétique des Cellules Souches - Epigenetics of Stem Cells, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), National ChengChi University [Taipei] (NCCU), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), This research was supported by funding from the European Research Council under the 7th Framework Program (FP7/2010–2015, ERC grant agreement 260787 to M.N. and FP7/2007–2013, and ERC grant agreement 609989 to M.A.M.-R.). M.A.M.-R. and G.C. acknowledge support from the European Union’s Horizon 2020 research and innovation program under grant agreement 676556. This work has also benefited from support by the Labex EpiGenMed, an «Investments for the future» program, reference ANR-10-LABX-12-01, the Spanish Ministry of Economy and Competitiveness (BFU2013-47736-P to M.A.M.-R.), and from 'Centro de Excelencia Severo Ochoa 2013–2017', SEV-2012-0208 to the CRG. 3D-SIM experiments were performed at Montpellier Resource Imaging. We acknowledge the France-BioImaging infrastructure supported by the French National Research Agency (ANR-10-INBS-04, «Investments for the future»)., ANR-10-LABX-0012,EpiGenMed,From Genome and Epigenome to Molecular Medicine: turning new paradigms in biology into the therapeutic strategies of tomorrow(2010), European Project: 260787,EC:FP7:ERC,ERC-2010-StG_20091118,SMINSULATOR(2010), European Project: 609989,EC:FP7:ERC,ERC-2013-SyG,4D-GENOME(2014), European Project: 676556,H2020,H2020-EINFRA-2015-1,MuG(2015), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), and National ChengChi University [Taipei]
Subjects: Epigenomics, [SDV.GEN]Life Sciences [q-bio]/Genetics, Genome, Nanoscale biophysics, [SDV]Life Sciences [q-bio], Science, Chromatin Assembly and Disassembly, Chromatin, Chromosomes, Article, Epigenesis, Genetic, Computational biology and bioinformatics, Animals, Drosophila, lcsh:Q, Single-Cell Analysis, Super-resolution microscopy, lcsh:Science
Abstract: At the kilo- to megabase pair scales, eukaryotic genomes are partitioned into self-interacting modules or topologically associated domains (TADs) that associate to form nuclear compartments. Here, we combine high-content super-resolution microscopies with state-of-the-art DNA-labeling methods to reveal the variability in the multiscale organization of the Drosophila genome. We find that association frequencies within TADs and between TAD borders are below ~10%, independently of TAD size, epigenetic state, or cell type. Critically, despite this large heterogeneity, we are able to visualize nanometer-sized epigenetic domains at the single-cell level. In addition, absolute contact frequencies within and between TADs are to a large extent defined by genomic distance, higher-order chromosome architecture, and epigenetic identity. We propose that TADs and compartments are organized by multiple, small-frequency, yet specific interactions that are regulated by epigenetics and transcriptional state., Eukaryotic genomes are partitioned into self-interacting modules or topologically associated domains (TADs) that exist at the kilo-megabase scale. Here Cattoni et al. combine super-resolution microscopy with DNA-labeling methods to quantify absolute frequencies of interactions within TADs.
Published: 2017

22. Transposons played a major role in the diversification between the closely related almond and peach genomes: results from the almond genome sequence

Author: Jordi Garcia-Mas, Paolo Ribeca, Amit Dhingra, Fernando Cruz, Raúl Castanera, Michelle Wirthensohn, Angel V. Fernández i Martí, Irene Julca, H. Duval, Jordi Morata, Pere Puigdomènech, Leonor Frias, José Luis García, Tyler Alioto, Konstantinos G. Alexiou, Amélie Bardil, Josep M. Casacuberta, Pere Arús, Marta Gut, Beatriz Galán, Anna Vlasova, Werner Howad, Toni Gabaldón, María José Rubio Cabetas, Fabio Barteri, Jèssica Gómez-Garrido, Ministerio de Economía y Competitividad (España), Generalitat de Catalunya, University of Adelaide, Alioto, Tyler, Alexiou, KG, Bardil, Amélie, Barteri, Fabio, Castanera, Raúl, Cruz, Fernando, Dhingra, Amit, Galán, Beatriz, García, José Luis, Howad, Werner, Gómez-Garrido, Jèssica, Julca, Irene, Morata, Jordi, Puigdomènech, Pere, Ribeca, Paolo, Rubio-Cabetas, María José, Wirthensohn, Michelle G., García-Mas, Jordi, Gabaldón, Toni, Casacuberta, Josep M., Arús, Pere, Producció Vegetal, Genòmica i Biotecnologia, Centro de Regulación Genómica (CRG), Universitat Pompeu Fabra [Barcelona] (UPF), Institute of Agrifood Research and Technology (IRTA), Génétique et Amélioration des Fruits et Légumes (GAFL), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Genome Center, University of California [Davis] (UC Davis), University of California-University of California, University of California, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Consejo Superior de Investigaciones Científicas [Spain] (CSIC), Centre for Research in Agricultural Genomics (CRAG), University of Zaragoza - Universidad de Zaragoza [Zaragoza], ICREA Infection Biology Laboratory (Department of Experimental and Health Sciences), Spanish Ministry of Economy and Competitiveness (MINECO/FEDER) AGL2012-40228-C02-01 AGL2015-68329-R AGL2016-78992-RRTA2015-00050-00-00 Severo Ochoa Program for Centres of Excellence in RD Instituto de Investigacion Agropecuaria (INIA) RTA-2014-00062 201-2019 SEV-2015-0533, Alioto, Tyler [0000-0002-2960-5420], Alexiou, KG [0000-0003-0121-9517], Bardil, Amélie [0000-0003-4795-9561], Barteri, Fabio [0000-0003-0844-512X], Castanera, Raúl [0000-0002-3772-7727], Cruz, Fernando [0000-0003-4098-8829], Dhingra, Amit [0000-0002-4464-2502], Galán, Beatriz [0000-0002-2596-6034], García, José Luis [0000-0002-9238-2485], Howad, Werner [0000-0001-6215-8434], Gómez-Garrido, Jèssica [0000-0001-6409-8009], Julca, Irene [0000-0002-1332-7948], Morata, Jordi [0000-0002-6146-4322], Puigdomènech, Pere [0000-0002-9866-861X], Ribeca, Paolo [0000-0001-5599-3933], Rubio-Cabetas, María José [0000-0002-3455-0145], Wirthensohn, Michelle G. [0000-0003-1174-6580], García-Mas, Jordi [0000-0001-7101-9049], Gabaldón, Toni [0000-0003-0019-1735], Casacuberta, Josep M. [0000-0002-5609-4152], and Arús, Pere [0000-0003-0939-8038]
Subjects: 0106 biological sciences, 0301 basic medicine, genome sequence, Sequence assembly, Plant Science, 01 natural sciences, Genome, Divergence, Domestication, Prunus, Phylogeny, Crop evolution, 2. Zero hunger, Genetics, Transposones, Chromosome Mapping, food and beverages, Seeds, seed bitterness, Transposons, Genome, Plant, Resource, Transposable element, Almonds, Rosaceous crops, Variación genética, Biology, Genes, Plant, Seed bitterness, Evolution, Molecular, 03 medical and health sciences, Species Specificity, Genomes, Variability, Gene, Genome size, Genomas, Synteny, Whole genome sequencing, Prunus persica, Base Sequence, Cell Biology, DNA Methylation, Prunus dulcis, Indels, Evolución, Genòmica, [SDV.BV.AP]Life Sciences [q-bio]/Vegetal Biology/Plant breeding, 030104 developmental biology, DNA Transposable Elements, Genome sequence, Transposable elements, divergence, 010606 plant biology & botany
Abstract: We sequenced the genome of the highly heterozygous almond Prunus dulcis cv. Texas combining short and long-read sequencing. We obtained a genome assembly totaling 227.6 Mb of the estimated 238 Mb almond genome size, of which 91% is anchored to eight pseudomolecules corresponding to its haploid chromosome complement, and annotated 27,969 protein-coding genes and 6,747 non-coding transcripts. By phylogenomic comparison with the genomes of 16 additional close and distant species we estimated that almond and peach (P. persica) diverged around 5.88 Mya. These two genomes are highly syntenic and show a high degree of sequence conservation (20 nucleotide substitutions/kb). However, they also exhibit a high number of presence/absence variants, many attributable to the movement of transposable elements (TEs). TEs have generated an important number of presence/absence variants between almond and peach, and we show that the recent history of TE movement seems markedly different between them. TEs may also be at the origin of important phenotypic differences between both species, and in particular, for the sweet kernel phenotype, a key agronomic and domestication character for almond. Here we show that in sweet almond cultivars, highly methylated TE insertions surround a gene involved in the biosynthesis of amygdalin, whose reduced expression has been correlated with the sweet almond phenotype. Altogether, our results suggest a key role of TEs in the recent history and diversification of almond and its close relative peach., This research was supported in part by grants from: the Ministry of Economy and Competitiveness (MINECO/FEDER projects AGL2012-40228-C02-01, AGL2015-68329-R and RTA2015-00050-00-00, Severo Ochoa Program for Centres of Excellence in R&D 201-2019 SEV-2015-0533 and CERCA Programme-Generalitat de Catalunya) from Spain. MW acknowledges grant support from the Waite Research Institute of the University of Adelaide.
Published: 2019

23. Post-transcriptional regulatory patterns revealed by protein-RNA interactions

Author: Zanzoni, Andreas, Spinelli, Lionel, Ribeiro, Diogo M., Tartaglia, Gian Gaetano, Brun, Christine, Theories and Approaches of Genomic Complexity (TAGC), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Centre National de la Recherche Scientifique (CNRS), ANR-11-IDEX-0001,Amidex,INITIATIVE D'EXCELLENCE AIX MARSEILLE UNIVERSITE(2011), European Project: 309545,EC:FP7:ERC,ERC-2012-StG_20111109,RIBOMYLOME(2013), Zanzoni, Andreas, INITIATIVE D'EXCELLENCE AIX MARSEILLE UNIVERSITE - - Amidex2011 - ANR-11-IDEX-0001 - IDEX - VALID, and The Role of Non-coding RNA in Protein Networks and Neurodegenerative Diseases - RIBOMYLOME - - EC:FP7:ERC2013-01-01 - 2017-12-31 - 309545 - VALID
Subjects: Cellular signalling networks, [SDV]Life Sciences [q-bio], lcsh:R, RNA-Binding Proteins, lcsh:Medicine, Regulon, Article, Gene regulatory networks, [SDV] Life Sciences [q-bio], Gene Expression Regulation, Humans, lcsh:Q, Protein Interaction Maps, RNA, Messenger, RNA Processing, Post-Transcriptional, Gene expression regulation, humans, protein interaction maps, RNA, messenger, RNA-binding proteins, regulon, transcriptome, RNA processing, post-transcriptional, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], Transcriptome, lcsh:Science, [INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM]
Abstract: International audience; the coordination of the synthesis of functionally-related proteins can be achieved at the post-transcriptional level by the action of common regulatory molecules, such as RNA-binding proteins (RBPs). Despite advances in the genome-wide identification of RBPs and their binding transcripts, the protein-RNA interaction space is still largely unexplored, thus hindering a broader understanding of the extent of the post-transcriptional regulation of related coding RNAs. Here, we propose a computational approach that combines protein-mRNA interaction networks and statistical analyses to provide an inferred regulatory landscape for more than 800 human RBPs and identify the cellular processes that can be regulated at the post-transcriptional level. We show that 10% of the tested sets of functionally-related mRNAs can be post-transcriptionally regulated. Moreover, we propose a classification of (i) the RBps and (ii) the functionally-related mRNAs, based on their distinct behaviors in the functional landscape, hinting towards mechanistic regulatory hypotheses. In addition, we demonstrate the usefulness of the inferred functional landscape to investigate the cellular role of both well-characterized and novel RBps in the context of human diseases. While transcription contributes to coordinated gene expression in time and space, several studies highlighted the discordance between levels of mRNAs and protein production 1,2. This indicates that the regulation of mRNA transcripts is key to achieve coordinated protein synthesis. Indeed, it has been shown that sets of transcripts coding for functionally related proteins are bound by common regulatory molecules, such as RNA-binding proteins (RBPs) and/or non-coding RNAs, thus forming the so-called RNA regulons 3,4. Early protein-RNA interaction mapping studies in yeast demonstrated that many RBPs bind specific mRNAs coding for proteins involved in the same biological process (e.g., ribosome biogenesis, chromatin architecture, oxidative phosphorylation) or that are cytotopically related (e.g., cell wall, endoplasmic reticulum, mitochon-drion) 5,6. In mammalian cells, several sets of related mRNAs are part of RNA regulons as well, e.g., histone mRNAs bound by the stem-loop binding protein (SLBP) 7 , transcripts involved in inflammation regulated by the RBPs ELAVL1, HNRNPL and TTP 8 , those implicated in DNA damage response and regulated by the RBPs BCLAF1, ELAVL1 and THRAP3 9,10 and mRNAs coding for cell cycle and proliferation factors bound by Dead end protein homolog 1 (DND1) and Pumilio 1 (PUM1) proteins 9. As this regulatory phenomenon has been observed in different species, RNA regulons represent a conserved feature of the post-transcriptional regulation in eukaryotes 3,4,11. However, even though RNA regulon perturbations can lead to the onset of neurological diseases and cancers in human 12-14 , the control of these regulatory circuits exerted by RBPs is rather sketchy 15,16 , therefore calling for further scrutiny. A deeper understanding of post-transcriptional regulation is subordinate to the availability of experimentally verified protein-mRNA interaction data. Over the last years, studies based on high-throughput methods to detect RNA molecules bound by RBPs, such as RNA immunoprecipitation and CLIP-based techniques 17,18 allowed to identify thousands of protein-RNA interactions. However, these studies have focused on the binding ability of a reduced number of established RBPs in a few cell lines 18 , indicating that the protein-RNA interactions space is largely unexplored. Moreover, thanks to the recent development of RNA interactome capture technologies
Published: 2019

24. A comprehensive genome variation map of melon identifies multiple domestication events and loci influencing agronomic traits

Author: Jordi Garcia-Mas, Abdelhafid Bendahmane, Elad Oren, Hanno Schaefer, Amit Gur, Zhu Yingchun, He Yuhua, Diandian Ou, Sanwen Huang, Nurit Katzir, Kong Weihu, Li Na, Lara Pereira, Sun Dexi, Jason Argyris, Runze Wang, Toni Gabaldón, Qiushi Fu, Zhao Guangwei, Jiabing Ji, Zhonghua Zhang, Shengjie Zhao, Qun Lian, Jian Zhang, Antonio J. Monforte, Wang Jiming, Yong Xu, Huaisong Wang, Marta Pujol, Michel Pitrat, Wei Fan, Liu Junpu, Yang Zhong, Wang Pingyong, Tao Lin, Xu Yongyang, Zhangjun Fei, Xu Zhihong, Shang Jianli, Irene Julca, Valentino Ruggieri, Catherine Dogimont, Ma Shuangwu, Carlos Mayobre, Producció Vegetal, Genòmica i Biotecnologia, Chinese Academy of Agricultural Sciences (CAAS), Inst Vegetables & Flowers, Qingdao Agricultural University, Institut de Recerca I Tecnología Agroalimentaries, Centre for Research in Agricultural Genomics (CRAG), Instituto de Biologia Molecular Y Celular de Plantas, Universitat Politècnica de València (UPV), Universitat Autònoma de Barcelona (UAB), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Universitat Pompeu Fabra [Barcelona] (UPF), Dongguk University, Seoul (Department of Energy & Materials Engineering), State Key Laboratory of Crop Genetics and Germplasm Enhancement, College of Resources and Environmental Sciences, Nanjing Agricutural University, Beijing Academy of Agriculture and Forestry Sciences, Agricultural Research Organisation (ARO), Volcani Center, Génétique et Amélioration des Fruits et Légumes (GAFL), Institut National de la Recherche Agronomique (INRA), Plant Biodiversity Research, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Chinese Academy of Sciences [Beijing] (CAS), Boyce Thompson Institute [Ithaca], Department of Fruit Science, College of Horticulture, China Agricultural University (CAU), Institut de Recerca i Tecnologia Agroalimentaries, Agriculture Research System of China, Guandong Academy Of Agricultural Sciences, National Natural Science Foundation of China, National Key Research and Development Program (China), National Institute of Food and Agriculture (US), European Research Council, Ministerio de Economía y Competitividad (España), Generalitat de Catalunya, German Research Foundation, Technical University of Munich (TUM), Unité de recherche en génomique végétale (URGV), and Institut National de la Recherche Agronomique (INRA)-Université d'Évry-Val-d'Essonne (UEVE)-Centre National de la Recherche Scientifique (CNRS)
Subjects: cucumber cucumis-sativus, Melon, Quantitative Trait Loci, cloning, population-structure, wide association, Genomics, tomato, Quantitative trait locus, Biology, Subspecies, Genome, Polymorphism, Single Nucleotide, diversity, [SHS]Humanities and Social Sciences, Crop, Domestication, 03 medical and health sciences, 0302 clinical medicine, Genetics, Plant breeding, gene, 030304 developmental biology, 2. Zero hunger, 0303 health sciences, Chromosome Mapping, food and beverages, tool, 15. Life on land, humanities, color, Computational biology and bioinformatics, Cucurbitaceae, Plant Breeding, Phenotype, Evolutionary biology, Plant sciences, 030217 neurology & neurosurgery, Genome, Plant, Genome-Wide Association Study
Abstract: Melon is an economically important fruit crop that has been cultivated for thousands of years; however, the genetic basis and history of its domestication still remain largely unknown. Here we report a comprehensive map of the genomic variation in melon derived from the resequencing of 1,175 accessions, which represent the global diversity of the species. Our results suggest that three independent domestication events occurred in melon, two in India and one in Africa. We detected two independent sets of domestication sweeps, resulting in diverse characteristics of the two subspecies melo and agrestis during melon breeding. Genome-wide association studies for 16 agronomic traits identified 208 loci significantly associated with fruit mass, quality and morphological characters. This study sheds light on the domestication history of melon and provides a valuable resource for genomics-assisted breeding of this important crop., This work was supported by funding from the Agricultural Science and Technology Innovation Program (to Yongyang Xu, S.H., Z.Z. and H.W.), the China Agriculture Research System (CARS-25 to Yongyang Xu and H.W.), the Leading Talents of Guangdong Province Program (00201515 to S.H.), the Shenzhen Municipal (The Peacock Plan KQTD2016113010482651 to S.H.), the Dapeng district government, National Natural Science Foundation of China (31772304 to Z.Z.), the Science and Technology Program of Guangdong (2018B020202007 to S.H.), the National Natural Science Foundation of China (31530066 to S.H.), the National Key R&D Program of China (2016YFD0101007 to S.H.), USDA National Institute of Food and Agriculture Specialty Crop Research Initiative (2015-51181-24285 to Z.F.), the European Research Council (ERC-SEXYPARTH to A.B.), the Spanish Ministry of Economy and Competitiveness (AGL2015–64625-C2-1-R to J.G.-M.), Severo Ochoa Programme for Centres of Excellence in R&D 2016–2010 (SEV-2015–0533 to J.G.-M.), the CERCA Programme/Generalitat de Catalunya to J.G.-M. and the German Science Foundation (SPP1991 Taxon-OMICS to H.S.).
Published: 2019

25. Incorporating alignment uncertainty into Felsenstein's phylogenetic bootstrap to improve its reliability

Author: Olivier Gascuel, Jia-Ming Chang, Evan Floden, Paolo Di Tommaso, Cedric Notredame, Javier Herrero, European Bioinformatics Institute [Hinxton] (EMBL-EBI), EMBL Heidelberg, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Bioinformatique évolutive - Evolutionary Bioinformatics, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Universitat Pompeu Fabra [Barcelona] (UPF), This work was supported by the Spanish Ministry of Science Plan Nacional [BFU2008-00419 to P.D.T. and C.N.], the Wellcome Trust [WT095908 to P.F.], the INCEPTION project [PIA/ANR-16-CONV-0005 to O.G.], the Taiwan Ministry of Science and Technology [106-2221-E-004-011-MY2 to J.-M.C.]. We acknowledge support of the European Molecular Biology Laboratory, the Spanish Ministry of Economy and Competitiveness, 'Centro de Excelencia Severo Ochoa 2013-2017' and 'The Human Project from Mind, Brain and Learning' of NCCU from the Higher Education Sprout Project by the Ministry of Education in Taiwan., ANR-16-CONV-0005,INCEPTION,Institut Convergences pour l'étude de l'Emergence des Pathologies au Travers des Individus et des populatiONs(2016), and Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)
Subjects: 0106 biological sciences, Statistics and Probability, AcademicSubjects/SCI01060, Concatenation, [SDV.BID.SPT]Life Sciences [q-bio]/Biodiversity/Systematics, Phylogenetics and taxonomy, 010603 evolutionary biology, 01 natural sciences, Biochemistry, Filogènia, 03 medical and health sciences, Clade, Molecular Biology, Gene, Bootstrapping (statistics), 030304 developmental biology, Mathematics, 0303 health sciences, Sequence, Multiple sequence alignment, Phylogenetic tree, [SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE], Original Papers, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Computer Science Applications, Phylogenetics, Computational Mathematics, Computational Theory and Mathematics, Benchmark (computing), Algorithm, Genètica, Type I and type II errors
Abstract: Motivation: Most evolutionary analyses are based on pre-estimated multiple sequence alignment. Wong et al. established the existence of an uncertainty induced by multiple sequence alignment when reconstructing phylogenies. They were able to show that in many cases different aligners produce different phylogenies, with no simple objective criterion sufficient to distinguish among these alternatives. Results: We demonstrate that incorporating MSA induced uncertainty into bootstrap sampling can significantly increase correlation between clade correctness and its corresponding bootstrap value. Our procedure involves concatenating several alternative multiple sequence alignments of the same sequences, produced using different commonly used aligners. We then draw bootstrap replicates while favoring columns of the more unique aligner among the concatenated aligners. We named this concatenation and bootstrapping method, Weighted Partial Super Bootstrap (wpSBOOT). We show on three simulated datasets of 16, 32 and 64 tips that our method improves the predictive power of bootstrap values. We also used as a benchmark an empirical collection of 853 1-to-1 orthologous genes from seven yeast species and found wpSBOOT to significantly improve discrimination capacity between topologically correct and incorrect trees. Bootstrap values of wpSBOOT are comparable to similar readouts estimated using a single method. However, for reduced trees by 50% and 95% bootstrap thresholds, wpSBOOT comes out the lowest Type I error (less FP). Availability: The automated generation of replicates has been implemented in the T-Coffee package, which is available as open source freeware available from www.tcoffee.org. Supplementary information: Supplementary data are available at Bioinformatics online. This work was supported by the Spanish Ministry of Science Plan Nacional [BFU2008-00419 to P.D.T. and C.N.]; the Wellcome Trust [WT095908 to P.F.]; the INCEPTION project [PIA/ANR-16-CONV-0005 to O.G.]; the Taiwan Ministry of Science and Technology [106-2221-E-004-011-MY2 to J.-M.C.]. We acknowledge support of the European Molecular Biology Laboratory, the Spanish Ministry of Economy and Competitiveness, “Centro de Excelencia Severo Ochoa 2013-2017” and “The Human Project from Mind, Brain and Learning” of NCCU from the Higher Education Sprout Project by the Ministry of Education in Taiwan
Published: 2019

26. Protein complex scaffolding predicted as a prevalent function of long non-coding RNAs

Author: Ribeiro, Diogo M., Zanzoni, Andreas, Cipriano, Andrea, Delli Ponti, Riccardo, 1987, Spinelli, Lionel, Ballarino, Monica, Bozzoni, Irene, Tartaglia, Gian Gaetano, Brun, Christine, Theories and Approaches of Genomic Complexity (TAGC), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Biology and Biotechnology 'Charles Darwin', Institut Pasteur, Fondation Cenci Bolognetti - Istituto Pasteur Italia, Fondazione Cenci Bolognetti, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Centre National de la Recherche Scientifique (CNRS), Work in IB’s lab was partially supported by grants from ERC-2013 [AdG 340172–MUNCODD], Telethon [GGP16213], Human Frontiers Science Program Award [RGP0009/2014], Parent Project Italia, AFM-Telethon [17835], Epigen-Epigenomics Flagship Project and AriSLA full grant 2014 ‘ARCI’. Work in GGT’s lab was supported by the European Research Council [RIBOMYLOME_309545], Spanish Ministry of Economy and Competitiveness [BFU2014-55054-P]. The RAINET project leading to this publication has received funding from Excellence Initiative of Aix-Marseille University—A*MIDEX, a French ‘Investissements d’Avenir’ programme (to C.B.). Funding for open access charge: Excellence Initiative of Aix-Marseille University—A*MIDEX [RAINET]., ANR-11-IDEX-0001,Amidex,INITIATIVE D'EXCELLENCE AIX MARSEILLE UNIVERSITE(2011), European Project: 340172,EC:FP7:ERC,ERC-2013-ADG,MUNCODD(2014), European Project: 309545,EC:FP7:ERC,ERC-2012-StG_20111109,RIBOMYLOME(2013), Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Spinelli, Lionel, INITIATIVE D'EXCELLENCE AIX MARSEILLE UNIVERSITE - - Amidex2011 - ANR-11-IDEX-0001 - IDEX - VALID, Role of long non coding RNA in muscle differentiation and disease - MUNCODD - - EC:FP7:ERC2014-07-01 - 2019-06-30 - 340172 - VALID, and The Role of Non-coding RNA in Protein Networks and Neurodegenerative Diseases - RIBOMYLOME - - EC:FP7:ERC2013-01-01 - 2017-12-31 - 309545 - VALID
Subjects: [SDV.BIBS] Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Proteome, Computational Biology, RNA-Binding Proteins, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], lncRNA, cancer tissues, Ribonucleoproteins, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], RNA-protein complexes, RNA and RNA-protein complexes, protein scaffolding, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Humans, RNA, Genetic Predisposition to Disease, RNA, Long Noncoding, Protein Interaction Maps, Transcriptome, Algorithms, Protein Binding
Abstract: The human transcriptome contains thousands of long non-coding RNAs (lncRNAs). Characterizing their function is a current challenge. An emerging concept is that lncRNAs serve as protein scaffolds, forming ribonucleoproteins and bringing proteins in proximity. However, only few scaffolding lncRNAs have been characterized and the prevalence of this function is unknown. Here, we propose the first computational approach aimed at predicting scaffolding lncRNAs at large scale. We predicted the largest human lncRNA-protein interaction network to date using the catRAPID omics algorithm. In combination with tissue expression and statistical approaches, we identified 847 lncRNAs (∼5% of the long non-coding transcriptome) predicted to scaffold half of the known protein complexes and network modules. Lastly, we show that the association of certain lncRNAs to disease may involve their scaffolding ability. Overall, our results suggest for the first time that RNA-mediated scaffolding of protein complexes and modules may be a common mechanism in human cells. Work in IB’s lab was partially supported by grants from ERC-2013 [AdG 340172–MUNCODD]; Telethon [GGP16213]; Human Frontiers Science Program Award [RGP0009/2014]; Parent Project Italia, AFM-Telethon [17835]; Epigen-Epigenomics Flagship Project and AriSLA full grant 2014 ‘ARCI’. Work in GGT’s lab was supported by the European Research Council [RIBOMYLOME_309545]; Spanish Ministry of Economy and Competitiveness [BFU2014-55054-P]. The RAINET project leading to this publication has received funding from Excellence Initiative of Aix-Marseille University—A*MIDEX, a French ‘Investissements d’Avenir’ programme (to C.B.). Funding for open access charge: Excellence Initiative of Aix-Marseille University—A*MIDEX [RAINET].
Published: 2018

27. Human Early Life Exposome (HELIX) study: a European population-based exposome cohort

Author: Maitre, Léa, De Bont, Jeroen, Casas, Maribel, Robinson, Oliver, Aasvang, Gunn Marit, Agier, Lydiane, Andrušaitytė, Sandra, Ballester, Ferrán, Basagaña, Xavier, Borrás, Eva, Brochot, Céline, Bustamante, Mariona, Carracedo, Angel, De Castro, Montserrat, Dedele, Audrius, Donaire González, David, Estivill, Xavier, Evandt, Jorunn, Fossati, Serena, Giorgis Allemand, Lise, Granum, Berit, Grazuleviciene, Regina, Gützkow, Kristine Bjerve, Småstuen Haug, Line, Hernández Ferrer, Carles, Heude, Barbara, Ibarluzea Maurolagoitia, Jesús María, Julvez, Jordi, Karachaliou, Marianna, Keun, Hector C, Hjertager Krog, Norun, Lau, Chung-Ho E., Leventakou, Vasiliki, Lyon Caen, Sarah, Manzano, Cyntia, Mason, Dan, McEachan, Rosemary, Meltzer, Helle Margrete, Petraviciene, Inga, Quentin, Joane, Roumeliotaki, Theano, Sabido, Eduard, Saulnier, Pierre-Jean, Siskos, Alexandros P, Siroux, Valérie, Sunyer, Jordi, Tamayo, Ibon, Urquiza, Jose, Vafeiadi, Marina, Van Gent, Diana, Vives Usano, Marta, Waiblinger, Dagmar, Warembourg, Charline, Chatzi, Leda, Coen, Muireann, Van den Hazel, Peter, Nieuwenhuijsen, Mark J., Slama, Rémy, Thomsen, Cathrine, Wright, John, Vrijheid, Martine, Instituto de Salud Global - Institute For Global Health [Barcelona] (ISGlobal), Universitat Pompeu Fabra [Barcelona] (UPF), CIBER de Epidemiología y Salud Pública (CIBERESP), Norwegian Institute of Public Health [Oslo] (NIPH), Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Vytautas Magnus University - Vytauto Didziojo Universitetas (VDU), Universitat de València (UV), Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana [Espagne] (FISABIO), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Institut National de l'Environnement Industriel et des Risques (INERIS), Universidade de Santiago de Compostela [Spain] (USC ), CIBER de Enfermedades Raras (CIBERER), Sidra Medicine [Doha, Qatar], Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), University of the Basque Country/Euskal Herriko Unibertsitatea (UPV/EHU), BIODonostia Research Institute, Public Health Division of Gipuzkoa, University of Crete [Heraklion] (UOC), Imperial College London, CIC - Poitiers, Université de Poitiers-Centre hospitalier universitaire de Poitiers (CHU Poitiers)-Direction Générale de l'Organisation des Soins (DGOS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Harvard University [Cambridge], Keck School of Medicine [Los Angeles], University of Southern California (USC), Maastricht University [Maastricht], Veiligheids-en Gezondheidsregio Gelderland Midden [Arnhem, the Netherlands] (VGGM), Civs, Gestionnaire, Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Commission of the European Communities, Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Universidade de Santiago de Compostela. Instituto de Ciencias Forenses 'Luis Concheiro'(INCIFOR), RS: NUTRIM - R3 - Respiratory & Age-related Health, and Complexe Genetica
Subjects: Male, Urban Population, Epidemiology, Blood Pressure, 01 natural sciences, 0302 clinical medicine, USE REGRESSION-MODELS, Prospective Studies, profile, education.field_of_study, Anthropometry, public health, birth cohort, General Medicine, 3. Good health, MOTHER, Child, Preschool, Prenatal Exposure Delayed Effects, [SDV.TOX]Life Sciences [q-bio]/Toxicology, Cohort, Body Composition, HEALTH, Food Hypersensitivity, Birth cohort, medicine.medical_specialty, Exposome, exposome, 03 medical and health sciences, land-use, [SDV.EE.SANT] Life Sciences [q-bio]/Ecology, environment/Health, Humans, education, Psychological Tests, child cohort, Public health, areas, Infant, Environmental Exposure, AIR-POLLUTION, DNA Methylation, Omics, medicine.disease, CHILD COHORT, exposure, Attention Deficit Disorder with Hyperactivity, Biomarkers, Proteome, Salut Pública, Neurodevelopment, use regression-models, 010501 environmental sciences, AREAS, 11. Sustainability, 030212 general & internal medicine, Prospective cohort study, mother, Smoking, Community child health, health, omics, Respiratory Function Tests, [SDV.TOX] Life Sciences [q-bio]/Toxicology, Europe, PREGNANCY, Exposoma, Blood pressure, Metabolome, epidemiology, Female, pregnancy, community child health, Adult, Population, Mothers, PROFILE, Childhood obesity, Hazardous Substances, Young Adult, Environmental health, medicine, air-pollution, Body Weights and Measures, EXPOSURE, 0105 earth and related environmental sciences, [SDV.EE.SANT]Life Sciences [q-bio]/Ecology, environment/Health, LAND-USE, business.industry, Respiratory health, Infant, Newborn, HELIX, Socioeconomic Factors, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Gene-Environment Interaction, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, European population, business, Transcriptome
Abstract: Purpose Essential to exposome research is the collection of data on many environmental exposures from different domains in the same subjects. The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes. Here, we describe recruitment, measurements available and baseline data of the HELIX study populations. Participants The HELIX study represents a collaborative project across six established and ongoing longitudinal population-based birth cohort studies in six European countries (France, Greece, Lithuania, Norway, Spain and the UK). HELIX used a multilevel study design with the entire study population totalling 31472 mother-child pairs, recruited during pregnancy, in the six existing cohorts (first level); a subcohort of 1301 mother-child pairs where biomarkers, omics signatures and child health outcomes were measured at age 6-11 years (second level) and repeat-sampling panel studies with around 150 children and 150 pregnant women aimed at collecting personal exposure data (third level). Findings to date Cohort data include urban environment, hazardous substances and lifestyle-related exposures for women during pregnancy and their offspring from birth until 6-11 years. Common, standardised protocols were used to collect biological samples, measure exposure biomarkers and omics signatures and assess child health across the six cohorts. Baseline data of the cohort show substantial variation in health outcomes and determinants between the six countries, for example, in family affluence levels, tobacco smoking, physical activity, dietary habits and prevalence of childhood obesity, asthma, allergies and attention deficit hyperactivity disorder. Future plans HELIX study results will inform on the early life exposome and its association with molecular omics signatures and child health outcomes. Cohort data are accessible for future research involving researchers external to the project. The research leading to these results has received funding from the European Community's Seventh Framework Programme (FP7/2007-206) under grant agreement no 308333-the HELIX project. Dr Maribel Casas and Dr Jordi Julvez received funding from Instituto de Salud Carlos III (Ministry of Economy and Competitiveness) (MS16/00128, MS14/00108). INMA data collections were supported by grants from the Instituto de Salud Carlos III, CIBERESP, the Conselleria de Sanitat, Generalitat Valenciana, Department of Health of the Basque Government; the Provincial Government of Gipuzkoa, and the Generalitat de Catalunya-CIRIT. KANC was funded by the grant of the Lithuanian Agency for Science Innovation and Technology (6-04-2014_31V-66). The Norwegian Mother and Child Cohort Study (MoBa) is supported by the Norwegian Ministry of Health and the Ministry of Education and Research, NIH/NIEHS (contract no. N01-ES-75558), and NIH/NINDS (grant no. 1 UO1 NS 047537-01 and grant no. 2 UO1 NS 047537-06A1). The Rhea project was financially supported by European projects, and the Greek Ministry of Health (Program of Prevention of Obesity and Neurodevelopmental Disorders in Preschool Children, in Heraklion district, Crete, Greece: 2011-2014; 'Rhea Plus': Primary Prevention Program of Environmental Risk Factors for Reproductive Health, and Child Health: 2012-2015). The work was also supported by MICINN (MTM2015-68140-R) and Centro Nacional de Genotipado-CEGEN-PRB2-ISCIII. CW received funding from the Fondation de France.
Published: 2018

28. Haplotype selection as an adaptive mechanism in the protozoan pathogen Leishmania donovani

Author: Jean-Claude Dujardin, Pablo Prieto Barja, Victor Chaumeau, Yvon Sterkers, Heinz Himmelbauer, Gerald F. Späth, Pascale Pescher, Darek Kedra, Giovanni Bussotti, Michel Pagès, Franck Dumetz, Malgorzata A. Domagalska, Cedric Notredame, Hideo Imamura, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Universitat Pompeu Fabra [Barcelona] (UPF), Parasitologie moléculaire et Signalisation / Molecular Parasitology and Signaling, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Hub Bioinformatique et Biostatistique - Bioinformatics and Biostatistics HUB, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Institute of Tropical Medicine [Antwerp] (ITM), Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), Institute of Molecular Biotechnology (IMBA), Austrian Academy of Sciences (OeAW), Biologie, Génétique et Pathologie des Pathogènes Eucaryotes (MIVEGEC-BioGEPPE), Pathogènes, Environnement, Santé Humaine (EPATH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud])-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud])-Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud])-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), University of Antwerp (UA), Work on samples from the Indian subcontinent was supported by the European Union 7th Framework Programme (EU FP7) (Kaladrug-R, contract 222895), the Belgian Science Policy Office (TRIT, P7/41), the Department of Economy, Science and Innovation in Flanders (ITM-SOFIB) and the Flemish Fund for Scientific Research (G.0.B81.12). We thank Life Science Editors for editing assistance. This study recieved funding from Plan Nacional (BFU2011-28575 to C.N., P.P.B. and D.K.), Center for Genomic Regulation (CRG), Spanish Ministry of Economy and Competitiveness, ‘Centro de Excelencia Severo Ochoa 2013–2017’ (SEV-2012–0208), a grant from the Institut Pasteur International Department strategic fund to the LeiSHield consortium (P.P.B., P.P, C.N., G.F.S., G.B. and Y.S.), Agence Nationale de la Recherche (ANR) within the framework of the 'Investissements d’avenir' programme (ANR-11-LABX-0024-01 'PARAFRAP') (V.C., M.P. and Y.S.), the EU FP7 (Kaladrug-R, contract 222895), the Belgian Science Policy Office (TRIT, P7/41), the Department of Economy, Science and Innovation in Flanders (ITM-SOFIB) and the Flemish Fund for Scientific Research (G.0.B81.12) (J.C.D., F.D., H.I. and M.D.)., ANR-11-LABX-0024,ParaFrap,Alliance française contre les maladies parasitaires(2011), European Project: 222895,EC:FP7:HEALTH,FP7-HEALTH-2007-B,KALADRUG-R(2008), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Clinical sciences, Medical Genetics, Vriendenkring VUB, Centre for Genomic Regulation [Barcelona] ( CRG ), Universitat Pompeu Fabra [Barcelona]-Centro Nacional de Analisis Genomico [Barcelona] ( CNAG ), Parasitologie moléculaire et Signalisation, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre National de la Recherche Scientifique ( CNRS ) -Institut Pasteur [Paris], Institute of Tropical Medicine [Antwerp] ( ITM ), Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle ( MIVEGEC ), Université de Montpellier ( UM ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD [France-Sud] ), Max-Planck-Institut für Molekulare Genetik ( MPIMG ), Max-Planck-Gesellschaft, Work on samples from the Indian subcontinent was supported by the European Union 7th Framework Programme (EU FP7) (Kaladrug-R, contract 222895), the Belgian Science Policy Office (TRIT, P7/41), the Department of Economy, Science and Innovation in Flanders (ITM-SOFIB) and the Flemish Fund for Scientific Research (G.0.B81.12). We thank Life Science Editors for editing assistance. This study recieved funding from Plan Nacional (BFU2011-28575 to C.N., P.P.B. and D.K.), Center for Genomic Regulation (CRG), Spanish Ministry of Economy and Competitiveness, ‘Centro de Excelencia Severo Ochoa 2013–2017’ (SEV-2012–0208), a grant from the Institut Pasteur International Department strategic fund to the LeiSHield consortium (P.P.B., P.P, C.N., G.F.S., G.B. and Y.S.), Agence Nationale de la Recherche (ANR) within the framework of the 'Investissements d’avenir' programme (ANR-11-LABX-0024-01 'PARAFRAP') (V.C., M.P. and Y.S.), the EU FP7 (Kaladrug-R, contract 222895), the Belgian Science Policy Office (TRIT, P7/41), the Department of Economy, Science and Innovation in Flanders (ITM-SOFIB) and the Flemish Fund for Scientific Research (G.0.B81.12), ANR-11-LABX-0024/11-LABX-0024,ParaFrap,Alliance française contre les maladies parasitaires ( 2011 ), and European Project : 222895,EC:FP7:HEALTH,FP7-HEALTH-2007-B,KALADRUG-R ( 2008 )
Subjects: 0301 basic medicine, Mutation rate, haplotypes, MESH: Selection, Genetic, Adaptation, Biological, Protozoan Proteins, Leishmania donovani, 03 medical and health sciences, 0302 clinical medicine, MESH: Aneuploidy, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, aneuploidy, Selection, Genetic, Biology, MESH: Protozoan Proteins, Ecology, Evolution, Behavior and Systematics, Selection (genetic algorithm), Genetics, Genetic diversity, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Leishmania donovani, [ SDV ] Life Sciences [q-bio], Ecology, biology, Mechanism (biology), MESH: Adaptation, Biological, Haplotype, MESH: Haplotypes, biology.organism_classification, genome instability, Genome evolution, fitness, 030104 developmental biology, Experimental evolution, dosage compensation, Parasitology, Human medicine, Adaptation, 030217 neurology & neurosurgery, Function (biology)
Abstract: International audience; The parasite Leishmania~ donovani causes a fatal disease termed visceral leishmaniasis. The process through which the parasite adapts to environmental change remains largely unknown. Here we show that aneuploidy is integral for parasite adaptation and that karyotypic fluctuations allow for selection of beneficial haplotypes, which impact transcriptomic output and correlate with phenotypic variations in proliferation and infectivity. To avoid loss of diversity following karyotype and haplotype selection, L. donovani utilizes two mechanisms: polyclonal selection of beneficial haplotypes to create coexisting subpopulations that preserve the original diversity, and generation of new diversity as aneuploidy-prone chromosomes tolerate higher mutation rates. Our results reveal high aneuploidy turnover and haplotype selection as a unique evolutionary adaptation mechanism that L. donovani uses to preserve genetic diversity under strong selection. This unexplored process may function in other human diseases, including fungal infection and cancer, and stimulate innovative treatment options.
Published: 2017

29. Whole-genome analyses resolve early branches in the tree of life of modern birds

Author: Bhanu Rekepalli, Jaime Huerta-Cepas, David Haussler, Beth Shapiro, Frank E. Rheindt, Bo Li, Per Alström, Oliver A. Ryder, Salvador Capella-Gutierrez, Jianwen Li, José Alfredo Samaniego, Binghang Liu, Paula F. Campos, David P. Mindell, Xiangjiang Zhan, An Pas, Yinhua Huang, Liang Liu, Scott V. Edwards, Dave Burt, David A. Ray, Andrew Dixon, Hui Li, Toni Gabaldón, Bastien Boussau, Cai Li, Hans Ellegren, Carsten Rahbek, Shengbin Li, Michael J. Braun, Peter Houde, Peter V. Lovell, Alexandros Stamatakis, Claudia C. Weber, Yong Zhang, Jian Wang, Thomas Sicheritz-Pontén, Volodymyr Zavidovych, Alexander Suh, Xiong Yinqi, Maria Paula Cruz Schneider, Stephen J. O'Brien, Ganesh Ganapathy, Shamsuzzoha Bayzid, Huanming Yang, Guojie Zhang, Alonzo Alfaro-Núñez, Claudio V. Mello, Michael Bunce, Amy C. Driskell, Francisco Prosdocimi, Zijun Xiong, Joel Cracraft, Long Zhou, Mikkel H. Schierup, Brant C. Faircloth, Gary R. Graves, F. Keith Barker, Jon Fjeldså, Benoit Nabholz, Bent E. K. Lindow, Frederick H. Sheldon, Robb T. Brumfield, Nitish Narula, Bent O. Petersen, Kasper Munch, Klaus-Peter Koepfli, Rute R. da Fonseca, Thomas L. Bailey, Kui Wu, Quiemei Zheng, Tandy Warnow, John E. McCormack, Elizabeth P. Derryberry, Linnéa Smeds, Simon Y. W. Ho, Polina L. Perelman, Siavash Mirarab, Qi Zhou, Michael William Bruford, Knud A. Jønsson, M. Thomas P. Gilbert, Ning Li, Richard E. Green, Edward L. Braun, R. Paul Scofield, Wesley C. Warren, Zhenyu Li, Fang Zhang Zhang, Warren E. Johnson, Morgan Wirthlin, Jason T. Howard, Travis C. Glenn, Ludovic Orlando, Mads F. Bertelsen, David M. Lambert, Andre J. Aberer, Erich D. Jarvis, Sankar Subramanian, Amhed Missael Vargas Velazquez, Yongli Zeng, Eske Willerslev, Jin Xiao, Shiping Liu, Wang Jun, Howard Hughes Medical Institute (HHMI), Duke University Medical Center, University of Texas at Austin [Austin], Heidelberg Institute for Theoretical Studies (HITS ), Beijing Genomics Institute [Shenzhen] (BGI), Xi'an Jiaotong University (Xjtu), Natural History Museum of Denmark, Faculty of Science [Copenhagen], University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU), New Mexico State University, The University of Sydney, University of California, Institut des Sciences de l'Evolution de Montpellier (UMR ISEM), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Montpellier (UM)-Institut de recherche pour le développement [IRD] : UR226-Centre National de la Recherche Scientifique (CNRS), Evolutionary Biology Centre (EBC), Uppsala University, Okinawa Institute of Science and Technology Graduate University, University of Georgia [USA], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Griffith University [Brisbane], Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Institució Catalana de Recerca i Estudis Avançats (ICREA), Joint Institute for Computational Sciences [Knoxville] (JICS), The University of Tennessee [Knoxville], Oak Ridge National Laboratory [Oak Ridge] (ORNL), UT-Battelle, LLC, Aarhus University [Aarhus], The McDonnell Genome Institute (MGI), Washington University in Saint Louis (WUSTL), Department of Biochemistry, Molecular Biology, Entomology and Plant Pathology [Mstate, USA] (BCH-EPP), Mississippi State University [Mississippi], Department of Biological Sciences [Lubbock], Texas Tech University [Lubbock] (TTU), Department of Ecology and Evolutionary Biology [Santa Cruz], University of California [Santa Cruz] (UCSC), University of California-University of California, School of Biosciences [Cardiff], Cardiff University, Kunming Institute of Zoology, Chinese Academy of Sciences [Beijing] (CAS), International Wildlife Consultants Ltd, China Agricultural University (CAU), Tulane University, Louisiana State University (LSU), Copenhagen Zoo, Oregon Health and Science University [Portland] (OHSU), Federal University of Para - Universidade Federal do Para [Belem - Brésil], Technical University of Denmark [Lyngby] (DTU), Breeding Centre for Endangered Arabian Wildlife, Dubai Hospital, Canterbury Museum, Curtin University [Perth], Planning and Transport Research Centre (PATREC), Department of Integrative Biology [Berkeley] (IB), University of California [Berkeley], National Cancer Institute Frederick, Novosibirsk State University (NSU), Smithsonian Institution, Department of Biological Sciences [Singapore], National University of Singapore (NUS), Bell Museum of Natural History, University of Minnesota [Twin Cities] (UMN), University of Minnesota System-University of Minnesota System, Department of Life Sciences, Imperial College London, Smithsonian Conservation Biology Institute, Theodosius Dobzhansky Center for Genome Bioinformatics, St Petersburg State University (SPbU), Nova Southeastern University (NSU), Center for Biomolecular Science and Engineering, San Diego Zoo Global Institute for Conservation Research, Occidental College, The Roslin Institute, Royal (Dick) School of Veterinary Studies, University of Edinburgh, Key Laboratory of Zoological Systematics and Evolution, Chinese Academy of Agricultural Sciences (CAAS), Swedish Species Information Centre, Swedish University of Agricultural Sciences (SLU), Department of Organismic and Evolutionary Biology [Cambridge] (OEB), Harvard University [Cambridge], Institute of Theoretical Informatics, Karlsruhe Institute of Technology (KIT), Department of Biochemistry and Biophysics [San Francisco], American Museum of Natural History (AMNH), University of Florida [Gainesville] (UF), University of Illinois at Urbana-Champaign [Urbana], University of Illinois System, University of Copenhagen = Københavns Universitet (KU), King Abdulaziz University, Macau University of Science and Technology (MUST), The University of Hong Kong (HKU), University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH), University of California (UC), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-École Pratique des Hautes Études (EPHE), University of California [Santa Cruz] (UC Santa Cruz), University of California (UC)-University of California (UC), Kunming Institute of Zoology (KIZ), Federal University of Para - Universidade Federal do Pará - UFPA [Belém, Brazil] (UFPA), Danmarks Tekniske Universitet = Technical University of Denmark (DTU), University of California [Berkeley] (UC Berkeley), Biotechnology and Biological Sciences Research Council (BBSRC), Harvard University, and University of Copenhagen = Københavns Universitet (UCPH)
Subjects: Palaeognathae, MESH: Sequence Analysis, DNA, Genetic Speciation, MESH: Introns, Zoology, MESH: Biological Evolution, MESH: Base Sequence, Article, Coalescent theory, Avian Proteins, Birds, MESH: INDEL Mutation, INDEL Mutation, MESH: Avian Proteins, Animals, MESH: Animals, MESH: Genome, MESH: Phylogeny, Clade, Phylogeny, MESH: Genetic Speciation, Genome, Multidisciplinary, Columbea, Base Sequence, biology, Phylogenetic tree, [SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE], Sequence Analysis, DNA, Passerea, biology.organism_classification, Biological Evolution, Introns, MESH: Genes, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, Genes, MESH: DNA Transposable Elements, Neognathae, MESH: Birds, DNA Transposable Elements, Neoaves
Abstract: International audience; To better determine the history of modern birds, we performed a genome-scale phylogenetic analysis of 48 species representing all orders of Neoaves using phylogenomic methods created to handle genome-scale data. We recovered a highly resolved tree that confirms previously controversial sister or close relationships. We identified the first divergence in Neoaves, two groups we named Passerea and Columbea, representing independent lineages of diverse and convergently evolved land and water bird species. Among Passerea, we infer the common ancestor of core landbirds to have been an apex predator and confirm independent gains of vocal learning. Among Columbea, we identify pigeons and flamingoes as belonging to sister clades. Even with whole genomes, some of the earliest branches in Neoaves proved challenging to resolve, which was best explained by massive protein-coding sequence convergence and high levels of incomplete lineage sorting that occurred during a rapid radiation after the Cretaceous-Paleogene mass extinction event about 66 million years ago.
Published: 2014

30. Erratum to: Rapid transcriptional plasticity of duplicated gene clusters enables a clonally reproducing aphid to colonise diverse plant species

Author: Fabrice Legeai, Darren Waite, Daniel R. G. Price, Bernardo J. Clavijo, Saskia A. Hogenhout, Sara Lopez-Gomollon, David Swarbreck, Damian Loska, Sam T. Mugford, Simon Moxon, Yazhou Chen, Irene Julca, Thomas Derrien, Krissana Kowitwanich, Thomas C. Mathers, Honglin Feng, Paolo Lenzi, Cock van Oosterhout, Daniel Mapleson, Denis Tagu, Patrice Baa-Puyoulet, Florian Maumus, Anna Jordan, Dominique Lavenier, Marilyne Uzest, Manuella van Munster, Stefano Colella, Anthony Bretaudeau, Akiko Sugio, Alex C.C. Wilson, Georg Jander, Gemy Kaithakottil, Graeme J. Kettles, Toni Gabaldón, Tamas Dalmay, Olivier Collin, International Aphid Genomics Consortium (IAGC), Earlham Institute [Norwich], Institut de Génétique, Environnement et Protection des Plantes (IGEPP), AGROCAMPUS OUEST-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Recherche Agronomique (INRA), Biologie Fonctionnelle, Insectes et Interactions (BF2I), Institut National de la Recherche Agronomique (INRA)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA), Plateforme bioinformatique GenOuest [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Plateforme Génomique Santé Biogenouest®-Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), University of Miami [Coral Gables], Universitat Pompeu Fabra [Barcelona], Institució Catalana de Recerca i Estudis Avançats (ICREA), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona]-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Unité de Recherche Génomique Info (URGI), Institut National de la Recherche Agronomique (INRA), Biologie et Génétique des Interactions Plante-Parasite (UMR BGPI), Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro)-Centre international d'études supérieures en sciences agronomiques (Montpellier SupAgro)-Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Institut National de la Recherche Agronomique (INRA), Boyce Thompson Institute [Ithaca], University of East Anglia [Norwich] (UEA), Institut National de la Recherche Agronomique (INRA)-Université de Rennes (UR)-AGROCAMPUS OUEST, Université de Rennes (UR)-Plateforme Génomique Santé Biogenouest®-Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-GESTION DES DONNÉES ET DE LA CONNAISSANCE (IRISA-D7), Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Universitat Pompeu Fabra [Barcelona] (UPF), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Institut National de la Recherche Agronomique (INRA)-Centre international d'études supérieures en sciences agronomiques (Montpellier SupAgro)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Institut National de la Recherche Agronomique (INRA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-AGROCAMPUS OUEST, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon, Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National de Recherche en Informatique et en Automatique (Inria)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-CentraleSupélec-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-CentraleSupélec-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Institut National de la Recherche Agronomique (INRA)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Centre international d'études supérieures en sciences agronomiques (Montpellier SupAgro), Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Plateforme Génomique Santé Biogenouest®-GESTION DES DONNÉES ET DE LA CONNAISSANCE (IRISA-D7)
Subjects: 0301 basic medicine, Genetics, amélioration génétique, Aphid, [SDV.GEN]Life Sciences [q-bio]/Genetics, lcsh:QH426-470, génome, Microbiology and Parasitology, 15. Life on land, Biology, biology.organism_classification, Genome, Microbiologie et Parasitologie, lcsh:Genetics, 03 medical and health sciences, 030104 developmental biology, lcsh:Biology (General), Plant species, lcsh:QH301-705.5, Gene, ComputingMilieux_MISCELLANEOUS
Abstract: After publication of this article [1] we noticed that reference 50 was incorrect. The correct reference 50 is as follows: Santamaría S, Gonzalez-Cabrera J, Martinez M, Grbic V, Castanera P, Diaz L, Ortego F. Digestive proteases in bodies and faeces of the two-spotted spider mite, Tetranychus urticae. J Insect Physiol. 2015; 78:69–77 http://www.sciencedirect.com/science/article/pii/S0022191015001018
Published: 2017

31. Genome Regulation by Polycomb and Trithorax: 70 Years and Counting

Author: Giacomo Cavalli, Bernd Schuettengruber, Luciano Di Croce, Henri-Marc Bourbon, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre de biologie du développement (CBD), Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre de Biologie Intégrative (CBI), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Centre for Genomic Regulation [Barcelona] (CRG), and Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG)
Subjects: 0301 basic medicine, animal structures, Chromosomal Proteins, Non-Histone, Polycomb-Group Proteins, macromolecular substances, Biology, cellular memory, Genome, History, 21st Century, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Functional diversity, Neoplasms, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Gene expression, Genome regulation, Animals, Humans, cancer, trithorax, Epigenetics, development, Embryonic Stem Cells, Genetics, epigenetics, fungi, History, 20th Century, 3. Good health, Chromatin, nuclear architecture, 030104 developmental biology, Gene Expression Regulation, transgenerational epigenetic inheritance, chromatin, PRC1, transcription, polycomb
Abstract: International audience; Polycomb (PcG) and Trithorax (TrxG) group proteins are evolutionarily conserved chromatin-modifying factors originally identified as part of an epigenetic cellular memory system that maintains repressed or active gene expression states. Recently, they have been shown to globally control a plethora of cellular processes. This functional diversity is achieved by their ability to regulate chromatin at multiple levels, ranging from modifying local chromatin structure to orchestrating the three-dimensional organization of the genome. Understanding this system is a fascinating challenge of critical relevance for biology and medicine, since misexpression or mutation of multiple PcG components, as well as of TrxG members of the COMPASS family and of the SWI/SNF complex, is implicated in cancer and other diseases.
Published: 2017

32. ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Author: Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y. T., Mcgowan, Ruth, Des Medt, Maryse, O'Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Study, Ddd, Woolf, Adrian S., Banka, Siddharth, University of Manchester [Manchester], Regional Genetic Service, St Mary's Hospital, Manchester, East Anglian Medical Genetics Service, Cytogenetics Laboratory, Addenbrooke's Hospital, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Hospital, Center for Medical Genetics [Ghent], Ghent University Hospital, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona]-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Guy's Hospital [London], Centre for Human Genetics, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven)-University Hospitals Leuven [Leuven], IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Nottingham City Hospital, Western Sydney University (UWS), University of British Columbia (UBC), Department of Clinical Genetics (Queen Elizabeth University Hospital, Glasgow), Queen Elizabeth University Hospital (Glasgow), University of Edinburgh, Service d'anatomie et cytologie pathologiques [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Department of Clinical Genetics, Leicester Royal Infirmary, CLAD Ouest, Centre Hospitalier Universitaire [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Sheffield Children's Hospital, CHU Clermont-Ferrand, CHU de Lille, Genetic Health Services Victoria, Innsbruck Medical University [Austria] (IMU), University Hospitals of Leicester, University of Melbourne, Victorian Clinical Genetics Services, University of Northern British Columbia (UNBC), Hamad Bin Khalifa University (HBKU), The Wellcome Trust Sanger Institute [Cambridge], L002744/1, Medical Research Council UK, Central Manchester University Hospitals NHS Foundation Trust, Kidney Research UK, NIHR, Academy of Medical Sciences, 16-17/10, Newlife Foundation, 629396, Kabuki Research Fund, Wellcome Trust, HICF-1009-003, Health Innovation Challenge Fund, WT098051, Wellcome Trust Sanger Institute, Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo] (IRCCS), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Western Sydney University, Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], CHU Pontchaillou [Rennes], University Hospitals Leicester-University Hospitals Leicester, Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Sheffield Children's NHS Foundation Trust, University Hospitals Leicester, University of Northern British Columbia [Prince George] (UNBC), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and Innsbruck Medical University = Medizinische Universität Innsbruck (IMU)
Subjects: DYNAMICS, Male, Developmental Disabilities, CYTOSKELETON, Haploinsufficiency, Mice, Medicine and Health Sciences, RNA, Small Interfering, Child, Frameshift Mutation, developmental disorder, ARCHITECTURE, Cell Cycle, Coloboma, Malformations of Cortical Development, Codon, Nonsense, Child, Preschool, DELAY, malformations, Female, RNA Interference, Abnormalities, Multiple, Adult, Adolescent, Small Interfering, Young Adult, WINTER CEREBROFRONTOFACIAL SYNDROME, Report, Intellectual Disability, Humans, Animals, Abnormalities, Multiple, MALFORMATIONS, β-actin, Preschool, Codon, Aged, Cell Proliferation, [SDV.GEN]Life Sciences [q-bio]/Genetics, Infant, Newborn, Biology and Life Sciences, Infant, Facies, ACTB, Newborn, NUCLEAR ACTIN, Actins, BETA-ACTIN, Nonsense, DE-NOVO MUTATIONS, MECHANICS, chromatin, RNA, Gene Deletion
Abstract: ACTB encodes β-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial features. To date, the consequences of loss-of-function ACTB mutations have not been proven conclusively. We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS. Strikingly, this spectrum overlaps with that of several chromatin-remodeling developmental disorders. In wild-type mouse embryos, β-actin expression was prominent in the kidney, heart, and brain. ACTB mRNA expression levels in lymphoblastic lines and fibroblasts derived from affected individuals were decreased in comparison to those in control cells. Fibroblasts derived from an affected individual and ACTB siRNA knockdown in wild-type fibroblasts showed altered cell shape and migration, consistent with known roles of cytoplasmic β-actin. We also demonstrate that ACTB haploinsufficiency leads to reduced cell proliferation, altered expression of cell-cycle genes, and decreased amounts of nuclear, but not cytoplasmic, β-actin. In conclusion, we show that heterozygous loss-of-function ACTB mutations cause a distinct pleiotropic malformation syndrome with intellectual disability. Our biological studies suggest that a critically reduced amount of this protein alters cell shape, migration, proliferation, and gene expression to the detriment of brain, heart, and kidney development. ispartof: American Journal of Human Genetics vol:101 issue:6 pages:1021-1033 ispartof: location:United States status: published
Published: 2017

33. CD154 Induces Matrix Metalloproteinase-9 Secretion in Human Podocytes

Author: Rigothier, Claire, Daculsi, Richard, Lepreux, Sébastien, Auguste, Patrick, Villeneuve, Julien, Dewitte, Antoine, Doudnikoff, Evelyne, Saleem, Moin, Bourget, Chantal, Combe, Christian, Ripoche, Jean, Bioingénierie tissulaire (BIOTIS), Université de Bordeaux (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Néphrologie-transplantation-dialyse [Bordeaux], CHU Bordeaux [Bordeaux], Laboratoire Angiogenèse et Micro-environnement des Cancers (LAMC), Université Sciences et Technologies - Bordeaux 1 (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM), Howard Hughes Medical Institute (HHMI), Department of Molecular & Cell Biology [Berkeley], University of California [Berkeley] (UC Berkeley), University of California (UC)-University of California (UC), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), University of Bristol [Bristol], Service de Néphrologie-Transplantation-Dialyse, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Chassande, Olivier, Université Sciences et Technologies - Bordeaux 1-Institut National de la Santé et de la Recherche Médicale (INSERM), University of California [Berkeley], and University of California-University of California
Subjects: Blood Platelets, Podocytes, Reverse Transcriptase Polymerase Chain Reaction, [SDV]Life Sciences [q-bio], Blotting, Western, CD40 Ligand, Cell Differentiation, hemic and immune systems, Real-Time Polymerase Chain Reaction, [SDV] Life Sciences [q-bio], Matrix Metalloproteinase 9, Humans, RNA, Messenger, CD40 Antigens, Cells, Cultured, Cell Proliferation
Abstract: Matrix remodeling is a key feature of glomerulosclerosis secondary to diabetes or hypertension. Podocytes contribute to glomerular basement membrane (GBM) turnover by producing matrix components and matrix remodelling enzymes, including matrix metalloproteinases (MMPs). The CD40/CD154 signaling pathway modulates matrix remodeling through the synthesis of MMPs and tissue inhibitors of MMPs. Platelets are a primary blood reservoir of CD154. Here we studied, the impact of the CD154/CD40 pathway on MMP-9 expression by cultured human podocytes. The role of CD40/CD154 was evaluated upon exposure of podocytes to recombinant human CD154 (rhCD154) or activated platelet supernatants from healthy human subjects. We first showed by protein and mRNA expression that CD40 was synthesized by podocytes and detectable on kidney tissue sections. CD40 expression was acquired during podocyte differentiation and enhanced upon exposure to rhCD154. In podocytes, rhCD154 induced an increase of MMP-9 production as shown by RT-PCR, Western blot and and gelatin zymography. Activated platelet supernatants induced MMP-9 mRNA synthesis in podocytes, an effect reduced by anti-CD40 antibody. Our results underscore a potential role for platelets through the CD40/CD154 signaling pathway in the control of GBM synthesis and degradation, via its regulatory role on MMP-9 production. CD154 secretion by activated platelets may contribute to GBM alterations in proteinuric nephropathies. J. Cell. Biochem. 117: 2737-2747, 2016. © 2016 Wiley Periodicals, Inc.
Published: 2016

34. Selenoprotein Gene Nomenclature

Author: Ulrich Schweizer, Josef Köhrle, Michael T. Howard, Laurent Chavatte, Regina Brigelius-Flohé, Gustavo Salinas, Philip D. Whanger, Kaixun Huang, Fulvio Ursini, Matilde Maiorino, Raymond F. Burk, Marla J. Berry, Ick Young Kim, Dolph L. Hatfield, Miljan Simonović, Alexei V. Lobanov, Donna M. Driscoll, Margaret P. Rayman, Sharon Rozovsky, Alain Krol, Peter R. Hoffmann, Elias S.J. Arnér, Roger A. Sunde, Marcus Conrad, Fiona R. Green, Vadim N. Gladyshev, Byeong Jae Lee, Elspeth A. Bruford, Qiong Liu, Sergi Castellano, Ana Ferreiro, Xin Gen Lei, Bradley A. Carlson, Byung Cheon Lee, Gregory V. Kryukov, Alan M. Diamond, Paul R. Copeland, Yan Zhang, Edward E. Schmidt, Leopold Flohé, John E. Hesketh, Joseph Loscalzo, Marco Mariotti, Hwa-Young Kim, Roderic Guigó, Petra A. Tsuji, Lutz Schomburg, K. Sandeep Prabhu, Susan Tweedie, Diane E. Handy, Arne Holmgren, Alain Lescure, Robert J. Hondal, Harvard Medical School [Boston] (HMS), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Karolinska Institutet [Stockholm], University of Hawai‘i [Mānoa] (UHM), German Institute of Human Nutrition Potsdam-Rehbrücke (DIfE), European Bioinformatics Institute [Hinxton] (EMBL-EBI), EMBL Heidelberg, Vanderbilt University School of Medicine [Nashville], National Institutes of Health [Bethesda] (NIH), Max Planck Institute for Evolutionary Anthropology [Leipzig], Max-Planck-Gesellschaft, Expression de l'ARN chez les virus et les eucaryotes - RNA Expression in Viruses and Eukaryotes (REVE), Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institute for Developmental Genetics [Neuherberg] (IDG), German Research Center for Environmental Health - Helmholtz Center München (GmbH), Robert Wood Johnson Medical School [Piscataway, NJ] (RWJMS), University of Illinois [Chicago] (UIC), University of Illinois System, Cleveland Clinic, Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Universidad de la República [Montevideo] (UDELAR), Università degli Studi di Padova = University of Padua (Unipd), University of Manchester [Manchester], Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Newcastle University [Newcastle], University of Vermont [Burlington], University of Utah, Huazhong University of Science and Technology [Wuhan] (HUST), Yeungnam University [South Korea], Korea University [Seoul], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Architecture et Réactivité de l'ARN (ARN), Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), KSQ Therapeutics [Cambridge MA], Seoul National University [Seoul] (SNU), Cornell University [New York], Shenzhen University [Shenzhen], Pennsylvania State University (Penn State), Penn State System, University of Surrey (UNIS), University of Delaware [Newark], Instituto de Higiene [Montevideo], Montana State University (MSU), Rheinische Friedrich-Wilhelms-Universität Bonn, University of Wisconsin-Madison, Towson University [Towson, MD, United States], University of Maryland System, Oregon State University (OSU), Centre International de Recherche en Infectiologie - UMR (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Centre de référence des maladies rares neuromusculaires, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Universidad de la República [Montevideo] (UCUR), Universita degli Studi di Padova, and Universidad de la República (UDELAR)
Subjects: 0301 basic medicine, GPX2, SEPP1, selenocysteine, SEP15, function, gene name, genomics, nomenclature, selenium, selenoprotein, structure-function, Biochemistry, Molecular Biology, Cell Biology, Biology, 03 medical and health sciences, Terminology as Topic, Humans, education, Selenoproteins, chemistry.chemical_classification, Genetics, education.field_of_study, 030102 biochemistry & molecular biology, Selenoprotein N, Selenoprotein P, Methods and Resources, Selenoprotein T, Selenoprotein W, 030104 developmental biology, chemistry, Selenoprotein, [CHIM.OTHE]Chemical Sciences/Other
Abstract: International audience; The human genome contains 25 genes coding for selenocysteine-containing proteins (selenoproteins). These proteins are involved in a variety of functions, most notably redox homeostasis. Selenoprotein enzymes with known functions are designated according to these functions: TXNRD1, TXNRD2, and TXNRD3 (thioredoxin reductases), GPX1, GPX2, GPX3, GPX4, and GPX6 (glutathione peroxidases), DIO1, DIO2, and DIO3 (iodothyronine deiodinases), MSRB1 (methionine sulfoxide reductase B1), and SEPHS2 (selenophosphate synthetase 2). Selenoproteins without known functions have traditionally been denoted by SEL or SEP symbols. However, these symbols are sometimes ambiguous and conflict with the approved nomenclature for several other genes. Therefore, there is a need to implement a rational and coherent nomenclature system for selenoprotein-encoding genes. Our solution is to use the root symbol SELENO followed by a letter. This nomenclature applies to SELENOF (selenoprotein F, the 15-kDa selenoprotein, SEP15), SELENOH (selenoprotein H, SELH, C11orf31), SELENOI (selenoprotein I, SELI, EPT1), SELENOK (selenoprotein K, SELK), SELENOM (selenoprotein M, SELM), SELENON (selenoprotein N, SEPN1, SELN), SELENOO (selenoprotein O, SELO), SELENOP (selenoprotein P, SeP, SEPP1, SELP), SELENOS (selenoprotein S, SELS, SEPS1, VIMP), SELENOT (selenoprotein T, SELT), SELENOV (selenoprotein V, SELV), and SELENOW (selenoprotein W, SELW, SEPW1). This system, approved by the HUGO Gene Nomenclature Committee, also resolves conflicting, missing, and ambiguous designations for selenoprotein genes and is applicable to selenoproteins across vertebrates.
Published: 2016

35. Genetic Diversity and Population Structure of Rice Varieties Cultivated in Temperate Regions

Author: Marta Gut, Manuel Talon, Luis Marqués, Concha Domingo, Sophia Derdak, Juan Luis Reig-Valiente, Javier Terol, Juan Viruel, Ester Sales, Instituto Valenciano de Investigaciones Agrarias - Institut Valencià d'Investigacions Agraries - Valencian Institute for agricultural Research (IVIA), Institut méditerranéen de biodiversité et d'écologie marine et continentale (IMBE), Centre National de la Recherche Scientifique (CNRS)-Institut de recherche pour le développement [IRD] : UMR237-Aix Marseille Université (AMU)-Avignon Université (AU), Universidad Pablo de Olavide [Sevilla] (UPO), University of Zaragoza - Universidad de Zaragoza [Zaragoza], Departamento de Física [Minho] (DFUM), Universidade do Minho, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Universitat Pompeu Fabra [Barcelona] (UPF), Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Universidad de Sevilla. Departamento de Biología Vegetal y Ecología, Avignon Université (AU)-Aix Marseille Université (AMU)-Institut de recherche pour le développement [IRD] : UMR237-Centre National de la Recherche Scientifique (CNRS), and Universidade do Minho = University of Minho [Braga]
Subjects: 0106 biological sciences, 0301 basic medicine, Germplasm, Infinium SNP genotyping array, Population, Soil Science, Oryza sativa, Genomics, Plant Science, Biology, 01 natural sciences, Gene flow, 03 medical and health sciences, Genetic variation, Temperate climate, Domestication, education, 2. Zero hunger, Genetic diversity, education.field_of_study, business.industry, food and beverages, 15. Life on land, Biotechnology, 030104 developmental biology, Original Article, [SDE.BE]Environmental Sciences/Biodiversity and Ecology, business, Agronomy and Crop Science, SNPs, 010606 plant biology & botany
Abstract: Background After its domestication, rice cultivation expanded from tropical regions towards northern latitudes with temperate climate in a progressive process to overcome limiting photoperiod and temperature conditions. This process has originated a wide range of diversity that can be regarded as a valuable resource for crop improvement. In general, current rice breeding programs have to deal with a lack of both germplasm accessions specifically adapted to local agro-environmental conditions and adapted donors carrying desired agronomical traits. Comprehensive maps of genome variability and population structure would facilitate genome-wide association studies of complex traits, functional gene investigations and the selection of appropriate donors for breeding purposes. Results A collection of 217 rice varieties mainly cultivated in temperate regions was generated. The collection encompasses modern elite and old cultivars, as well as traditional landraces covering a wide genetic diversity available for rice breeders. Whole Genome Sequencing was performed on 14 cultivars representative of the collection and the genomic profiles of all cultivars were constructed using a panel of 2697 SNPs with wide coverage throughout the rice genome, obtained from the sequencing data. The population structure and genetic relationship analyses showed a strong substructure in the temperate rice population, predominantly based on grain type and the origin of the cultivars. Dendrogram also agrees population structure results. Conclusions Based on SNP markers, we have elucidated the genetic relationship and the degree of genetic diversity among a collection of 217 temperate rice varieties possessing an enormous variety of agromorphological and physiological characters. Taken together, the data indicated the occurrence of relatively high gene flow and elevated rates of admixture between cultivars grown in remote regions, probably favoured by local breeding activities. The results of this study significantly expand the current genetic resources available for temperate varieties of rice, providing a valuable tool for future association mapping studies. Electronic supplementary material The online version of this article (doi:10.1186/s12284-016-0130-5) contains supplementary material, which is available to authorized users.
Published: 2016

36. Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

Author: Loic Quevarec, Constance Manso, Annie Laquerrière, Jérôme Devaux, Fabien Guimiot, Florence Petit, Marta Gut, Florent Marguet, Marie Gonzales, Ivo Gut, Romulus Grigorescu, Sandra Whalen, Jérome Maluenda, Annick Toutain, Anne Dieux Coeslier, Alexandre J. Vivanti, Judith Melki, Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Biologie du Développement, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Institut méditerranéen de biodiversité et d'écologie marine et continentale (IMBE), Centre National de la Recherche Scientifique (CNRS)-Institut de recherche pour le développement [IRD] : UMR237-Aix Marseille Université (AMU)-Avignon Université (AU), Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), Service de génétique [Tours], Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Centre Nacional D'Anàlisi Genómica, Parc Cientific de Barcelona, Endothélium microcirculatoire cérébral et lésions du système nerveux central au cours du développement (Néovasc), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Anatomie et Cytologie Pathologique [CHU Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Normandie Université (NU), Centre de recherche en neurobiologie - neurophysiologie de Marseille (CRN2M), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Bicêtre, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Avignon Université (AU)-Aix Marseille Université (AMU)-Institut de recherche pour le développement [IRD] : UMR237-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Faculté de Médecine ( UPD5 Médecine ), Université Paris Descartes - Paris 5 ( UPD5 ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré, Institut méditerranéen de biodiversité et d'écologie marine et continentale ( IMBE ), Université d'Avignon et des Pays de Vaucluse ( UAPV ) -Aix Marseille Université ( AMU ) -Institut de recherche pour le développement [IRD] : UMR237-Centre National de la Recherche Scientifique ( CNRS ), Anthropologie bio-culturelle, Droit, Ethique et Santé ( ADES ), Aix Marseille Université ( AMU ) -EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique ( CNRS ), Hôpital Bretonneau-CHRU Tours, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Génétique et Embryologie, Centre for Genomic Regulation [Barcelona] ( CRG ), Universitat Pompeu Fabra [Barcelona]-Centro Nacional de Analisis Genomico [Barcelona] ( CNAG ), Endothélium microcirculatoire cérébral et lésions du système nerveux central au cours du développement ( Néovasc ), Institute for Research and Innovation in Biomedicine ( IRIB ), Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service d'Anatomie et Cytologie Pathologique [Rouen], CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Centre de recherche en neurobiologie - neurophysiologie de Marseille ( CRN2M ), Aix Marseille Université ( AMU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), and Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre
Subjects: Male, 0301 basic medicine, Cell Adhesion Molecules, Neuronal, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Nerve Tissue Proteins, Biology, 03 medical and health sciences, 0302 clinical medicine, Genetic linkage, Report, Ranvier's Nodes, Genetics, medicine, Humans, Exome, Nerve Growth Factors, Fetal Death, Alleles, Genetics (clinical), Exome sequencing, ComputingMilieux_MISCELLANEOUS, Arthrogryposis, Arthrogryposis multiplex congenita, Cell adhesion molecule, Infant, Newborn, Membrane Proteins, Disease gene identification, Axons, Pedigree, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, [ SDV.NEU.NB ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Peripheral nervous system, Mutation, Female, Sciatic nerve, medicine.symptom, Cell Adhesion Molecules, 030217 neurology & neurosurgery, Protein Binding
Abstract: Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through linkage analysis, homozygosity mapping, and exome sequencing in four unrelated families affected by lethal AMC, we identified biallelic mutations in GLDN in the affected individuals. GLDN encodes gliomedin, a secreted cell adhesion molecule involved in the formation of the nodes of Ranvier. Transmission electron microscopy of the sciatic nerve from one of the affected individuals showed a marked lengthening defect of the nodes. The GLDN mutations found in the affected individuals abolish the cell surface localization of gliomedin and its interaction with its axonal partner, neurofascin-186 (NF186), in a cell-based assay. The axoglial contact between gliomedin and NF186 is essential for the initial clustering of Na+ channels at developing nodes. These results indicate a major role of gliomedin in node formation and the development of the peripheral nervous system in humans. These data indicate that mutations of GLDN or CNTNAP1 (MIM: 616286), encoding essential components of the nodes of Ranvier and paranodes, respectively, lead to inherited nodopathies, a distinct disease entity among peripheral neuropathies.
Published: 2016

37. Generalized Bootstrap Supports for Phylogenetic Analyses of Protein Sequences Incorporating Alignment Uncertainty

Author: Olivier Gascuel, Maria Chatzou, Paolo Di Tommaso, Cedric Notredame, Evan Floden, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Méthodes et Algorithmes pour la Bioinformatique (MAB), Laboratoire d'Informatique de Robotique et de Microélectronique de Montpellier (LIRMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Bioinformatique évolutive - Evolutionary Bioinformatics, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), We acknowledge support of the Spanish Ministry of Economy and Competitiveness, ‘Centro de Excelencia Severo Ochoa 2013–2017. We acknowledge the support of the CERCA Programme/Generalitat de Catalunya, Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), and Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)
Subjects: 0106 biological sciences, 0301 basic medicine, Sequence analysis, Sequence alignment, Biology, [SDV.BID.SPT]Life Sciences [q-bio]/Biodiversity/Systematics, Phylogenetics and taxonomy, 010603 evolutionary biology, 01 natural sciences, 03 medical and health sciences, Genetics, Fraction (mathematics), Ecology, Evolution, Behavior and Systematics, Phylogeny, Sequence, Multiple sequence alignment, Phylogenetic tree, Models, Genetic, [SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE], Uncertainty, Sampling (statistics), Proteins, Classification, Tree (data structure), 030104 developmental biology, Bootstrap analysis, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], Algorithm, Sequence Alignment, Software
Abstract: International audience; Phylogenetic reconstructions are essential in genomics data analyses and depend on accurate multiple sequence alignment (MSA) models. We show that all currently available large-scale progressive multiple alignment methods are numerically unstable when dealing with amino-acid sequences. They produce significantly different output when changing sequence input order. We used the HOMFAM protein sequences dataset to show that on datasets larger than 100 sequences, this instability affects on average 21.5% of the aligned residues. The resulting Maximum Likelihood (ML) trees estimated from these MSAs are equally unstable with over 38% of the branches being sensitive to the sequence input order. We established that about two-thirds of this uncertainty stems from the unordered nature of children nodes within the guide trees used to estimate MSAs. To quantify this uncertainty we developed unistrap, a novel approach that estimates the combined effect of alignment uncertainty and site sampling on phylogenetic tree branch supports. Compared with the regular bootstrap procedure, unistrap provides branch support estimates that take into account a larger fraction of the parameters impacting tree instability when processing datasets containing a large number of sequences.
Published: 2016

38. Atad2 is a generalist facilitator of chromatin dynamics in embryonic stem cells

Author: Morozumi, Yuichi, Boussouar, Fayçal, Tan, Minjia, Chaikuad, Apirat, Jamshidikia, Mahya, Colak, Gozde, He, Huang, Nie, Litong, Petosa, Carlo, De Dieuleveult, Maud, Curtet, Sandrine, Vitte, Anne-Laure, Rabatel, Clothilde, Debernardi, Alexandra, François-Loïc, Cosset, Verhoeyen, Els, Emadali, Anouk, Schweifer, Norbert, Gianni, Davide, Gut, Marta, Guardiola, Philippe, Rousseaux, Sophie, Gérard, Matthieu, Knapp, Stefan, Zhao, Yingming, Khochbin, Saadi, Institut d'oncologie/développement Albert Bonniot de Grenoble (INSERM U823), Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), The Chemical Proteomics Center and State Key Laboratory of Drug Research, Shanghai Institute of Materia Medica, Structural Genomics Consortium, University of Oxford, Nuffield Department of Clinical Medicine [Oxford], Ben May Department of Cancer Research, The University of Chicago Medicine, Institut de biologie structurale (IBS - UMR 5075 ), Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Virus enveloppés, vecteurs et immunothérapie – Enveloped viruses, Vectors and Immuno-therapy (EVIR), Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Equipe 'Contrôle Métabolique des Morts Cellulaires' (INSERM U1065 - C3M), Centre méditerranéen de médecine moléculaire (C3M), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UCA), Boehringer Ingelheim RCV, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Centre de Recherche en Cancérologie Nantes-Angers (CRCNA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Laennec-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes (CHU Nantes), Institut d'oncologie/développement Albert Bonniot de Grenoble ( INSERM U823 ), Université Joseph Fourier - Grenoble 1 ( UJF ) -CHU Grenoble-EFS-Institut National de la Santé et de la Recherche Médicale ( INSERM ), University of Oxford [Oxford], Target Discovery Institute (TDI), Nuffield Department of Clinical Medicine, Institut de biologie structurale ( IBS - UMR 5075 ), Université Joseph Fourier - Grenoble 1 ( UJF ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Centre National de la Recherche Scientifique ( CNRS ) -Université Grenoble Alpes ( UGA ), Institut de Biologie Intégrative de la Cellule ( I2BC ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Centre National de la Recherche Scientifique ( CNRS ), Centre International de Recherche en Infectiologie ( CIRI ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-École normale supérieure - Lyon ( ENS Lyon ), Centre for Genomic Regulation [Barcelona] ( CRG ), Universitat Pompeu Fabra [Barcelona]-Centro Nacional de Analisis Genomico [Barcelona] ( CNAG ), Inserm u892, Centre de Recherches en Cancérologie, Nantes, Institut National de la Santé et de la Recherche Médicale (INSERM)-EFS-CHU Grenoble-Université Joseph Fourier - Grenoble 1 (UJF), Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Centre International de Recherche en Infectiologie - UMR (CIRI), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Nice Sophia Antipolis (... - 2019) (UNS), and COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Adenosine Triphosphatases, Male, Proteomics, histone turnover, Chromatin Immunoprecipitation, germ cells, Genome, Pax3, [ SDV ] Life Sciences [q-bio], [SDV]Life Sciences [q-bio], FACT, epidrug, Acetylation, Cell Differentiation, Article, Chromatin, Nucleosomes, DNA-Binding Proteins, histone chaperone, ATPases Associated with Diverse Cellular Activities, Humans, cancer drug target, Embryonic Stem Cells, Cell Proliferation, Protein Binding
Abstract: International audience; Although the conserved AAA ATPase and bromodomain factor, ATAD2, has been described as a transcriptional co-activator upregulated in many cancers, its function remains poorly understood. Here, using a combination of ChIP-seq, ChIP-proteomics, and RNA-seq experiments in embryonic stem cells where Atad2 is normally highly expressed, we found that Atad2 is an abundant nucleosome-bound protein present on active genes, associated with chromatin remodelling, DNA replication, and DNA repair factors. A structural analysis of its bromodomain and subsequent investigations demonstrate that histone acetylation guides ATAD2 to chromatin, resulting in an overall increase of chromatin accessibility and histone dynamics, which is required for the proper activity of the highly expressed gene fraction of the genome. While in exponentially growing cells Atad2 appears dispensable for cell growth, in differentiating ES cells Atad2 becomes critical in sustaining specific gene expression programmes, controlling proliferation and differentiation. Altogether, this work defines Atad2 as a facilitator of general chromatin-templated activities such as transcription.
Published: 2016

39. Functional and evolutionary genomics in aphids

Author: Tagu, Denis, Calevro, Federica, Colella, Stefano, Gabaldon, Toni, Sugio, Akiko, Institut de Génétique, Environnement et Protection des Plantes (IGEPP), Institut National de la Recherche Agronomique (INRA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-AGROCAMPUS OUEST, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Biologie Fonctionnelle, Insectes et Interactions (BF2I), Institut National de la Recherche Agronomique (INRA)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Vilcinskas, A., Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA), Laboratoire des symbioses tropicales et méditerranéennes (UMR LSTM), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Université Montpellier 1 (UM1)-Institut de Recherche pour le Développement (IRD)-Institut National de la Recherche Agronomique (INRA)-Université Montpellier 2 - Sciences et Techniques (UM2)-Université de Montpellier (UM)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Center for Genomic Regulation, Andreas Vilcinskas Editor, Universitat Pompeu Fabra [Barcelona]-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), and Institut National de la Recherche Agronomique (INRA)-Université de Rennes (UR)-AGROCAMPUS OUEST
Subjects: [SDV]Life Sciences [q-bio], [SDE.BE]Environmental Sciences/Biodiversity and Ecology, ComputingMilieux_MISCELLANEOUS
Abstract: International audience; no abstract
Published: 2016

40. A draft assembly of the almond genome

Author: Alioto, Tyler S., Fernando Cruz, Jessica Gómez-Garrido, Leonor Frias, Paolo Ribeca, Marta Gut, Konstantinos Alexiou, Werner Howad, Jordi Morata, Josep Casacuberta, Rubio-Cabetas, Maria J., Beatriz Galán, José Luis García, Amit Dhingra, henri Duval, Marti, Angel Fernandez I., Michelle Wirthensohn, Gut, Ivo G., Pere Arús, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), IRTA, Center for Research in Agricultural Genomics, Centre de Recerca en Agrigenòmica, Agrifood Research Center of Aragón, Centro de Investigacion y Technologia Agroalimentaria, Environmental Biology Department, Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), Department of Horticulture, Washington State University (WSU), Génétique et Amélioration des Fruits et Légumes (GAFL), Institut National de la Recherche Agronomique (INRA), Genome Center, University of California [Davis] (UC Davis), University of California-University of California, School of Agriculture, Food and Wine, University of Adelaide, and Centre for Research in Agricultural Genomics (CRAG)
Subjects: [SDV.SA]Life Sciences [q-bio]/Agricultural sciences, analyse de génome, séquençage du génome, food and beverages, Sciences agricoles, prunus dulcis, Agricultural sciences, prunus persica
Abstract: Almond is one of the oldest cultivated nut crops with its origin in central and western Asia. The selection of the sweet type [i](Prunus dulcis[/i]) distinguishes the domesticated almond from its bitter wild relatives. It is economically important, especially in California with the highest worldwide production, followed by Australia and Spain. The almond belongs to the same subgenus as the peach, for which there already exists a reference genome. However, to fully understand the genetic underpinnings marking the key phenotypic differences between almond and peach, we have sequenced the genome of the ‘Texas’ almond, one of the traditional cultivars producing a sweet nut. Whole-genome shotgun sequencing of Illumina paired-end libraries gave an initial low-contiguity assembly of 512 Mbp, nearly double the estimated genome size. Counting of k-mers indicates a 275 Mbp genome with substantial heterozygosity as well as repetitive sequence. In order to tackle both problems, we constructed a fosmid library and sequenced 68 pools of ~500 clones per pool. We then assembled the pools, merged them and finished the assembly by scaffolding with paired end and mate pair libraries, which resulted in a 240 Mbp assembly with a scaffold N50 of 500 kbp, a contig N50 of 33.5 kbp and CEGMA completeness of 99%. Two thirds of the assembly was anchored to the peach-almond genetic map, and using re-sequencing data of peach-almond hybrids and their parents we inferred the two haplotypes of the sequenced almond tree. We performed additional validation of the assembly using Oxford Nanopore MinION sequencing.
Published: 2016

41. A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers

Author: Marta Gut, Iris Pauporté, Cécile Mannina, Sancha Martin, Michael R. Stratton, Frédérique Penault-Llorca, Vincent Le Texier, Laurent Arnould, Pierre Saintigny, Marie-Christine Mathieu, P. Fumoleau, Xavier Pivot, Jean-François Deleuze, Hélène Blanché, Anthony Ferrari, Janice Kielbassa, Eskeatnaf Mulugeta, Olivier Tredan, Sandrine Boyault, Anne Vincent-Salomon, Thomas Bachelot, Emilie Thomas, Jean-Yves Pierga, Odette Mariani, Suzette Delaloge, Ivo Gut, Hervé Bonnefoi, Fabien Calvo, Frédéric Bibeau, Alain Viari, Serena Nik-Zainal, Anne-Sophie Sertier, Gilles Romieu, Maria Rios, Gaëtan MacGrogan, Jocelyne Jacquemier, Laurie Tonon, Gilles Thomas, Jean-Marc Ferrero, Isabelle Treilleux, Daniel Birnbaum, Catherine Bouteille, Carole Tarpin, Centre Léon Bérard [Lyon], Génétique et Biologie du Développement, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) (RIGHT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS BFC)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Validation et identification de nouvelles cibles en oncologie (VINCO), Institut Bergonié [Bordeaux], UNICANCER-UNICANCER-Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Lipides - Nutrition - Cancer (U866) (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA), Département de Biologie et pathologie des tumeurs [Centre Georges-François Leclerc], Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER-UNICANCER, Centre d'Etude du Polymorphisme Humain (CEPH), Université Paris Diderot - Paris 7 (UPD7)-Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Fondation Jean Dausset, Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Institut Gustave Roussy (IGR), Equipe de recherche sur les traitements individualisés des cancers (ERTICa), Université d'Auvergne - Clermont-Ferrand I (UdA), Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de Ressources Biologiques [Paris], Institut Curie [Paris], Département de pathologie, Physico-Chimie-Curie (PCC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Curie [Paris]-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5), Department of Medical Oncology [Lyon], UNICANCER - Institut régional du Cancer Montpellier Val d'Aurelle (ICM), CRLCC Val d'Aurelle - Paul Lamarque, UNICANCER, Pathologie mammaire, Département de médecine oncologique [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Institut de Cancérologie de Lorraine - Alexis Vautrin [Nancy] (UNICANCER/ICL), Pôle de Chirurgie Oncologique générale, Gynécologique et Mammaire [Centre Antoine-Lacassagne], Centre de Lutte contre le Cancer Antoine Lacassagne [Nice] (UNICANCER/CAL), UNICANCER-Université Côte d'Azur (UCA)-UNICANCER-Université Côte d'Azur (UCA), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Chirurgie gynécologique, mammaire et réparatrice [Saint-Etienne], Clinique Mutualiste Chirurgicale [Saint-Étienne], Direction de la recherche [Gustave Roussy], Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), The Wellcome Trust Sanger Institute [Cambridge], Institut National du Cancer [Boulogne Billancourt] (INC), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Equipe de recherche européenne en algorithmique et biologie formelle et expérimentale (ERABLE), Inria Grenoble - Rhône-Alpes, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -INSTITUT CURIE-Centre National de la Recherche Scientifique ( CNRS ), Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) ( HOTE GREFFON ), Université de Franche-Comté ( UFC ) -Etablissement français du sang [Bourgogne-France-Comté] ( EFS [Bourgogne-France-Comté] ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Validation et identification de nouvelles cibles en oncologie ( VINCO ), Université Bordeaux Segalen - Bordeaux 2-Institut Bergonié - CRLCC Bordeaux-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Lipides - Nutrition - Cancer (U866) ( LNC ), Université de Bourgogne ( UB ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon ( ENSBANA ), Centre Régional de Lutte contre le cancer - Centre Georges-François Leclerc ( CRLCC - CGFL ), Centre d'Etude du Polymorphisme Humain ( CEPH ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut Universitaire d'Hématologie ( IUH ), Université Paris Diderot - Paris 7 ( UPD7 ) -Fondation Jean Dausset, Institut Gustave Roussy ( IGR ), Equipe de recherche sur les traitements individualisés des cancers ( ERTICa ), Université d'Auvergne - Clermont-Ferrand I ( UdA ), UNICANCER - Institut régional du Cancer [Montpellier] ( ICM ), Institut Curie, Institut Bergonié - CRLCC Bordeaux, Physico-Chimie-Curie ( PCC ), Centre National de la Recherche Scientifique ( CNRS ) -INSTITUT CURIE-Université Pierre et Marie Curie - Paris 6 ( UPMC ), Université Paris Descartes - Paris 5 ( UPD5 ), Institut Gustave Roussy ( IGR ) -Institut Gustave Roussy ( IGR ), Institut de Cancérologie de Lorraine - Alexis Vautrin ( ICL ), CRLCC Antoine Lacassagne, Centre de Recherche en Cancérologie de Marseille ( CRCM ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université ( AMU ), Centre for Genomic Regulation [Barcelona] ( CRG ), Universitat Pompeu Fabra [Barcelona]-Centro Nacional de Analisis Genomico [Barcelona] ( CNAG ), Institut National du Cancer [Boulogne Billancourt] ( INC ), Centre de Recherche en Cancérologie de Lyon ( CRCL ), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Equipe de recherche européenne en algorithmique et biologie formelle et expérimentale ( ERABLE ), Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National de Recherche en Informatique et en Automatique ( Inria ), Nik-Zainal Abidin, Serena [0000-0001-5054-1727], Apollo - University of Cambridge Repository, Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté])-Université de Franche-Comté (UFC), Sagot, Marie-France, Centre National de la Recherche Scientifique (CNRS)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté]), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre National de la Recherche Scientifique (CNRS)-Institut Curie [Paris]-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Chimie du CNRS (INC), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU), Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC ( HOTE GREFFON ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Etablissement français du sang [Bourgogne-France-Comté] ( EFS [Bourgogne-France-Comté] ) -Université de Franche-Comté ( UFC ), Institut Paoli Calmettes, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -INSTITUT CURIE-Centre National de la Recherche Scientifique ( CNRS ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Institut Paoli-Calmettes-Aix Marseille Université ( AMU ), Université Claude Bernard Lyon 1 ( UCBL ), and Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS )
Subjects: 0301 basic medicine, DNA Copy Number Variations, Receptor, ErbB-2, Science, [SDV]Life Sciences [q-bio], General Physics and Astronomy, Breast Neoplasms, Biology, Genome, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Germline mutation, Gene duplication, medicine, Humans, Copy-number variation, skin and connective tissue diseases, Genetics, Multidisciplinary, Whole Genome Sequencing, [ SDV ] Life Sciences [q-bio], Gene Expression Profiling, Estrogen Receptor alpha, Gene Amplification, General Chemistry, Amplicon, medicine.disease, 3. Good health, Gene expression profiling, [SDV] Life Sciences [q-bio], 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Human genome, Female, Receptors, Progesterone, Transcriptome
Abstract: HER2-positive breast cancer has long proven to be a clinically distinct class of breast cancers for which several targeted therapies are now available. However, resistance to the treatment associated with specific gene expressions or mutations has been observed, revealing the underlying diversity of these cancers. Therefore, understanding the full extent of the HER2-positive disease heterogeneity still remains challenging. Here we carry out an in-depth genomic characterization of 64 HER2-positive breast tumour genomes that exhibit four subgroups, based on the expression data, with distinctive genomic features in terms of somatic mutations, copy-number changes or structural variations. The results suggest that, despite being clinically defined by a specific gene amplification, HER2-positive tumours melt into the whole luminal–basal breast cancer spectrum rather than standing apart. The results also lead to a refined ERBB2 amplicon of 106 kb and show that several cases of amplifications are compatible with a breakage–fusion–bridge mechanism., Breast cancer is separated into multiple subtypes based on the expression of HER2 and hormone receptors. Here, the authors report the whole genome sequence of 64 HER2 positive tumours and show that these can be further separated into four groups with different gene expression profiles and genomic features.
Published: 2016

42. Toward community standards in the quest for orthologs

Author: Dessimoz, Christophe, Gabaldón, Toni, Roos, David S., Sonnhammer, Erik L. L., Herrero, Javier, Altenhoff, Adrian, Apweiler, Rolf, Ashburner, Michael, Blake, Judith, Boeckmann, Brigitte, Bridge, Alan, Bruford, Elspeth, Cherry, Mike, Conte, Matthieu, Dannie, Durand, Datta, Ruchira, Domelevo Entfellner, Jean-Baka, Ebersberger, Ingo, Galperin, Michael, Joseph, Jacob, Koestler, Tina, Kriventseva, Evgenia, Lecompte, Odile, Leunissen, Jack, Lewis, Suzanna, Linard, Benjamin, Livstone, Michael S., Lu, Hui-Chun, Martin, Maria, Mazumder, Raja, Messina, David, Miele, Vincent, Muffato, Matthieu, Perrière, Guy, Punta, Marco, Roos, David, Rouard, Mathieu, Schmitt, Thomas, Schreiber, Fabian, Silva, Alan, Sjölander, Kimmen, Škunca, Nives, Sonnhammer, Erik, Stanley, Eleanor, Szklarczyk, Radek, Thomas, Paul, Uchiyama, Ikuo, Van Bel, Michiel, Vandepoele, Klaas, Vilella, Albert J., Yates, Andrew, Zdobnov, Evgeny, Department of Computer Science, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Spanish National Cancer Research Center (CNIO), European Bioinformatics Institute [Hinxton] (EMBL-EBI), EMBL Heidelberg, Centre for Ecology and Hydrology Banchory, Natural Environment Research Council (NERC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département de pharmacochimie moléculaire (DPM), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF), Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Régulation de l'expression génétique (REG), Département de Biologie - ENS Paris, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Bioinformatique, phylogénie et génomique évolutive (BPGE), Département PEGASE [LBBE] (PEGASE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Institut Pluridisciplinaire Hubert Curien (IPHC), Université de Strasbourg (UNISTRA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Agence Universitaire de la Francophonie (AUF), Université Joseph Fourier - Grenoble 1 (UJF)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Kriventseva, Evgenia, and Zdobnov, Evgeny
Subjects: EXPRESSION, Statistics and Probability, Protein family, PREDICTION, DATABASE, Computer science, CONSERVATION, ASSIGNMENT, Genomics, [SDV.BID.SPT]Life Sciences [q-bio]/Biodiversity/Systematics, Phylogenetics and taxonomy, computer.software_genre, Biochemistry, Genome, 03 medical and health sciences, 0302 clinical medicine, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], PROTEIN FAMILIES, ddc:576.5, Relevance (information retrieval), Community standards, Letter to the Editor, Molecular Biology, Gene, 030304 developmental biology, 0303 health sciences, IDENTIFICATION, Biology and Life Sciences, Genome Analysis, GENE, Data science, Computer Science Applications, PARALOGS, Computational Mathematics, Computational Theory and Mathematics, Proteome, Energy and redox metabolism Mitochondrial medicine [NCMLS 4], Identification (biology), Data mining, [SDE.BE]Environmental Sciences/Biodiversity and Ecology, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], GENOMICS, computer, 030217 neurology & neurosurgery
Abstract: Bioinformatics, 28 (6), ISSN:1367-4803, ISSN:1460-2059
Published: 2012

43. Building the muscle pattern: Role of Retinoic acid signaling in extraocular muscle morphogenesis

Author: Alexandre Robert-Moreno, James Sharpe, Norbert B. Ghyselinck, Shahragim Tajbakhsh, Valérie Dupé, Glenda Comai, Muriel Rhinn, Cellules Souches et Développement / Stem Cells and Development, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Louis Pasteur - Strasbourg I
Subjects: [SDV.GEN]Life Sciences [q-bio]/Genetics, 0303 health sciences, Embryology, Morphogenesis, Retinoic acid, Anatomy, Biology, Extraocular muscles, Cell biology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine.anatomical_structure, chemistry, medicine, 030217 neurology & neurosurgery, 030304 developmental biology, Developmental Biology
Abstract: International audience; 18th International Congress of Developmental Biology, Natil Univ Singapore, Singapore, June 2017
Published: 2017

44. Euclidean Nature of Phylogenetic Distance Matrices

Author: Sébastien Ollier, Damien M. de Vienne, Gabriela Aguileta, Ecologie Systématique et Evolution (ESE), Université Paris-Sud - Paris 11 (UP11)-AgroParisTech-Centre National de la Recherche Scientifique (CNRS), Centre for Genomic Regulation [Barcelona] (CRG), and Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG)
Subjects: 0106 biological sciences, Euclidean distance matrix, 010603 evolutionary biology, 01 natural sciences, Combinatorics, 03 medical and health sciences, Matrix (mathematics), Phylogenetics, Genetics, Quantitative Biology::Populations and Evolution, Computer Simulation, ComputingMilieux_MISCELLANEOUS, Phylogeny, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Mathematics, 0303 health sciences, Phylogenetic inertia, Phylogenetic tree, [SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE], Phylogenetic comparative methods, Classification, Quantitative Biology::Genomics, Distance matrix, Algorithm, Distance matrices in phylogeny
Abstract: Phylogenies are fundamental to comparative biology as they help to identify independent events on which statistical tests rely. Two groups of phylogenetic comparative methods (PCMs) can be distinguished: those that take phy- logenies into account by introducing explicit models of evolution and those that only consider phylogenies as a statistical constraint and aim at partitioning trait values into a phylogenetic component (phylogenetic inertia) and one or multiple specific components related to adaptive evolution. The way phylogenetic information is incorporated into the PCMs de- pends on the method used. For the first group of methods, phylogenies are converted into variance-covariance matrices of traits following a given model of evolution such as Brownian motion (BM). For the second group of methods, phyloge- nies are converted into distance matrices that are subsequently transformed into Euclidean distances to perform principal coordinate analyses. Here, we show that simply taking the elementwise square root of a distance matrix extracted from a phylogenetic tree ensures having a Euclidean distance matrix. This is true for any type of distances between species (patristic or nodal) and also for trees harboring multifurcating nodes. Moreover, we illustrate that this simple transforma- tion using the square root imposes less geometric distortion than more complex transformations classically used in the literature such as the Cailliez method. Given the Euclidean nature of the elementwise square root of phylogenetic distance matrices, the positive semidefinitiveness of the phylogenetic variance-covariance matrix of a trait following a BM model, or related models of trait evolution, can be established. In that way, we build a bridge between the two groups of statistical methods widely used in comparative analysis. These results should be of great interest for ecologists and evolutionary biologists performing statistical analyses incorporating phylogenies. (Biodiversity estimation; coevolution; cospeciation; functional diversity; multivariate analysis; phylogeny.)
Published: 2011

45. Systematic phenotyping of a large-scale Candida glabrata deletion collection reveals novel antifungal tolerance genes

Author: Biao Ma, Walter Glaser, Dominique Ferrandon, Marina Marcet-Houben, Ken Haynes, Jessica Quintin, Ute Zeidler, Fabian Istel, Brendan P. Cormack, Ingrid E. Frohner, Sascha Brunke, Katja Seider, Christophe d'Enfert, Brian Green, Sophie Bachellier-Bassi, Lauren Ames, Steffen Rupp, Karl Kuchler, Ilse D. Jacobsen, Ekkehard Hiller, Helmut Jungwirth, Vitor Cabral, Michael Tscherner, Arnaud Firon, Tobias Schwarzmüller, Murielle Chauvel, Bernhard Hube, Toni Gabaldón, Publica, Medizinische Universität Wien = Medical University of Vienna, Johns Hopkins University School of Medicine [Baltimore], Imperial College London, Fraunhofer Institute for Interfacial Engineering and Biotechnology (IGB), Center for sepsis control care, Friedrich Schiller University Jena [Jena, Germany], Leibniz Institute for Natural Product Research and Infection Biology (Hans Knoell Institute), Friedrich-Schiller-Universität Jena, University of Exeter, Biologie et Pathogénicité fongiques, Institut National de la Recherche Agronomique (INRA)-Institut Pasteur [Paris], Cellule Pasteur UPMC, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Pasteur [Paris], Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona]-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut für Molekulare Biowissenschaften [Graz], Karl-Franzens-Universität Graz, This work was supported by the Austrian Science Foundation FWF through the ERA-Net Pathogenomics project FunPath to KK (FWF-API-0125), SR (BMBF: 0313931A), TG, CD, DF and BH, and in part by the Christian Doppler Society to KK. BC and BM were supported in part by NIH RO1AI46223. BH and SB were supported by the German Federal Ministry of Education and Research (BMBF) through FKZ: 01EO1002. TG was funded in part by grants from the Spanish ministry of science and innovation (GEN2006-27784E, BFU2009-09168). KH was funded by the BBSRC (BB/F005210/1). DF was also partly supported by CNRS and the Fondation pour la recherche Medicale (Programme Equipe FRM). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript., ANR-06-PATH-0005,FUNPATH,Genomic approaches to unravel the molecular mechanisms of pathogenicity in the human fungal pathogen candida glabrata(2006), Fraunhofer Institute for Interfacial Engineering and Biotechnology (Fraunhofer IGB), Fraunhofer (Fraunhofer-Gesellschaft), Friedrich-Schiller-Universität = Friedrich Schiller University Jena [Jena, Germany], Biologie et Pathogénicité fongiques (BPF), Institut National de la Recherche Agronomique (INRA)-Institut Pasteur [Paris] (IP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Pasteur [Paris] (IP), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Institut Pasteur [Paris]-Institut National de la Recherche Agronomique (INRA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), lenormand, christelle, and Programme de recherche transnational Pathogenomics (ERA-NET) - Genomic approaches to unravel the molecular mechanisms of pathogenicity in the human fungal pathogen candida glabrata - - FUNPATH2006 - ANR-06-PATH-0005 - PATHO - VALID
Subjects: Azoles, Antifungal Agents, Antifungal drug, Candida glabrata, Biochemistry, biofilm, Echinocandins, Gene Knockout Techniques, chemistry.chemical_compound, MESH: Lipopeptides, Caspofungin, Cell Wall, MESH: Azoles, saccharomyces cerevisiae, délétion, Biology (General), Candida albicans, MESH: Candida glabrata, [SDV.MP.MYC]Life Sciences [q-bio]/Microbiology and Parasitology/Mycology, MESH: Gene Knockout Techniques, 0303 health sciences, Fungal protein, MESH: Microbial Sensitivity Tests, biology, Candidiasis, Fungal genetics, MESH: Candidiasis, phénotype, Phenotype, Medical Microbiology, antifongique, MESH: Fungal Proteins, paroi cellulaire, Functional genomics, Research Article, medicine.drug, Echinocandin, QH301-705.5, Immunology, Microbial Sensitivity Tests, MESH: Biofilms, MESH: Phenotype, Microbiology, MESH: Drug Resistance, Fungal, Fungal Proteins, Lipopeptides, pathogène fongique, 03 medical and health sciences, MESH: Cell Wall, Drug Resistance, Fungal, Osmotic Pressure, Virology, MESH: Gene Library, Genetics, medicine, azole, Microbial Pathogens, Molecular Biology, Gene Library, 030304 developmental biology, 030306 microbiology, MESH: Echinocandins, Biology and Life Sciences, RC581-607, MESH: Osmotic Pressure, biology.organism_classification, bacterial infections and mycoses, MESH: Antifungal Agents, [SDV.MP.MYC] Life Sciences [q-bio]/Microbiology and Parasitology/Mycology, chemistry, MESH: Gene Deletion, Biofilms, Parasitology, Immunologic diseases. Allergy, Gene Deletion
Abstract: The opportunistic fungal pathogen Candida glabrata is a frequent cause of candidiasis, causing infections ranging from superficial to life-threatening disseminated disease. The inherent tolerance of C. glabrata to azole drugs makes this pathogen a serious clinical threat. To identify novel genes implicated in antifungal drug tolerance, we have constructed a large-scale C. glabrata deletion library consisting of 619 unique, individually bar-coded mutant strains, each lacking one specific gene, all together representing almost 12% of the genome. Functional analysis of this library in a series of phenotypic and fitness assays identified numerous genes required for growth of C. glabrata under normal or specific stress conditions, as well as a number of novel genes involved in tolerance to clinically important antifungal drugs such as azoles and echinocandins. We identified 38 deletion strains displaying strongly increased susceptibility to caspofungin, 28 of which encoding proteins that have not previously been linked to echinocandin tolerance. Our results demonstrate the potential of the C. glabrata mutant collection as a valuable resource in functional genomics studies of this important fungal pathogen of humans, and to facilitate the identification of putative novel antifungal drug target and virulence genes., Author Summary Clinical infections by the yeast-like pathogen Candida glabrata have been ever-increasing over the past years. Importantly, C. glabrata is one of the most prevalent causes of drug-refractory fungal infections in humans. We have generated a novel large-scale collection encompassing 619 bar-coded C. glabrata mutants, each lacking a single gene. Extensive profiling of phenotypes reveals a number of novel genes implicated in tolerance to antifungal drugs that interfere with proper cell wall function, as well as genes affecting fitness of C. glabrata both during normal growth and under environmental stress. This fungal deletion collection will be a valuable resource for the community to study mechanisms of virulence and antifungal drug tolerance in C. glabrata, which is particularly relevant in view of the increasing prevalence of infections caused by this important human fungal pathogen.
Published: 2014

46. « ArthropodaCyc » : une collection de bases de données enrichies à l’aide de CycADS pour étudier et comparer le métabolisme des arthropodes

Author: Baa-Puyoulet, Patrice, Colella, Stefano, Vellozo, Augusto, Huerta-Cepas, Jaime, Febvay, Gérard, Calevro, Federica, Gabaldon, Toni, Sagot, Marie-France, Charles, Hubert, Biologie Fonctionnelle, Insectes et Interactions (BF2I), Institut National de la Recherche Agronomique (INRA)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA), An algorithmic view on genomes, cells, and environments (BAMBOO), Inria Grenoble - Rhône-Alpes, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Unité de recherche Productions végétales (CRAG ANT PROD V), Institut National de la Recherche Agronomique (INRA), Barcelona Supercomputing Center - Centro Nacional de Supercomputacion (BSC - CNS), Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Inria Grenoble - Rhône-Alpes, and Institut National de Recherche en Informatique et en Automatique (Inria)
Subjects: transcriptomics, Buchnera, system biology, Acyrthosiphon pisum, microarray, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM]
Abstract: International audience; « ArthropodaCyc » : une collection de bases de données enrichies à l’aide de CycADS pour étudier et comparer le métabolisme des arthropodes.Patrice Baa-Puyoulet1, Augusto F. Vellozo2,3, Jaime Huerta-Cepas4, Gérard Febvay1, Federica Calevro1, Toni Gabaldon4, Marie-France Sagot2,3, Hubert Charles1,3 et Stefano Colella1,*.1 UMR203 BF2I, Biologie Fonctionnelle Insectes et Interactions, INRA, INSA-Lyon, Université de Lyon, Villeurbanne, France; 2 Université Lyon 1, CNRS, UMR5558, Laboratoire de Biométrie et Biologie Evolutive, Villeurbanne, France; 3 BAMBOO, INRIA Rhône-Alpes, France; 4 Center for Genomic Regulation, Barcelona, Spain ; * contact : Stefano.Colella@lyon.inra.frAprès la publication de plusieurs génomes d’arthropodes, de nombreuses autres espèces vont être séquencées dans un futur proche, en particulier à travers l’initiative i5ki. La disponibilité de ces multiples séquences ouvre la voie à des études comparatives entre espèces afin de mieux comprendre les différents aspects de la biologie des arthropodes. Ces études nécessitent l’intégration des données génomiques et fonctionnelles en évolution constante : les séquences génomiques et l’annotation fonctionnelle des protéines devant être collectées de sources et méthodes variées et mises à jour régulièrement.Durant l’annotation du génome du puceron du pois (Acyrthosiphon pisum) nous avons développé CycADSii (Cyc Annotation Database System), un système de gestion d’annotations automatisé permettant l’intégration des informations qui sont utilisées pour la reconstruction des réseaux métaboliques. Les données issues de Genbank et/ou de bases de données génomiques spécifiques, ainsi que les annotations fonctionnelles obtenues par les méthodes KAAS-KEGG, PRIAM, Blast2GO, PhylomeDB et MetaPhOrs, sont collectées dans CycADS. Ces annotations sont ensuite extraites, avec possibilité d’appliquer différents filtres de qualité, pour produire les fichiers d’entrée de PathwayTools, un logiciel qui génère et/ou met à jour des bases de données métaboliques de type BioCyc. Nous avons utilisé CycADS pour créer ArthropodaCyciii, une collection de bases de données métaboliques qui, à ce jour, contient 22 arthropodes: [Arachnida] Ixodes scapularis ; [Coleoptera] Tribolium castaneum ; [Crustacea] Daphnia pulex ; [Diptera] Aedes aegypti, Anopheles gambiae, Culex quinquefasciatus, Drosophila melanogaster, Glossina morsitans ; [Hemiptera] Acyrthosiphon pisum, Rhodnius prolixus ; [Hymenoptera] Apis mellifera, Nasonia vitripennis, Atta cephalotes, Acromyrmex echinatior, Camponotus floridanus, Harpegnathos saltator, Linepithema humile, Pogonomyrmex barbatus, Solenopsis invicta, [Lepidoptera] Danaus plexippus, Heliconius melpomene ; [Phthiraptera] Pediculus humanus. Dans ces bases, nous avons ajouté de nombreux liens externes vers les données génomiques de chaque organisme (AphidBase, BeetleBase, VectorBase, Hymenoptera Genome, FlyBase, wFleaBase, MonarchBase, ButterflyGenome) et d’annotation fonctionnelle (Brenda-Enzyme, Gene Ontology, KEGG Orthology et PhylomeDB). Notre collection de bases métaboliques permet alors de réaliser des analyses comparatives en utilisant les fonctionnalités web interactives d’ArthropodaCyc.Dans le futur, nous prévoyons d’ajouter l’annotation métabolique d’autres génomes en cours de séquençage et d’implémenter des passerelles vers des outils d’analyses de réseaux (tels que MetExplore). Nous sommes aussi ouverts à des collaborations sur des projets de séquençage d’arthropodes en cours, pour participer à la première annotation fonctionnelle des protéines et réaliser la reconstruction de leur métabolisme.i http://arthropodgenomes.org/wiki/i5K ii http://www4.inra.fr/cycads/iii http://arthropodacyc.cycadsys.org/
Published: 2013

47. Comparative genomics of emerging pathogens in the Candida glabrata clade

Author: Christiane Bouchier, Christian Marck, Ralitsa Atanasova, Gabriela Aguileta, Adela Enache-Angoulvant, Toni Gabaldón, Eric Westhof, Cécile Fairhead, Bernard Dujon, Cécile Neuvéglise, Patrick Wincker, Marina Marcet-Houben, Tiphaine Martin, Arnaud Couloux, Laurence Ma, Julien Recoquillay, Eric Pelletier, Olivier Lespinet, Juliette Guitard, Julie Poulain, Sophie Creno, Hugo Devillers, Sylvie Arnaise, Stéphanie Boisnard, Amélie Pinard, José Almeida Cruz, Laure Jaouen, Monique Bolotin-Fukuhara, Christophe Hennequin, Pascal Durrens, Bioinformatics and Genomics Programme, Universitat Pompeu Fabra [Barcelona] (UPF)-Centre for Genomic Regulation (CRG), Models and Algorithms for the Genome ( MAGNOME), Inria Bordeaux - Sud-Ouest, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Institut de génétique et microbiologie [Orsay] (IGM), Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), Immunité et Infection, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR113-Institut National de la Santé et de la Recherche Médicale (INSERM), Génomique (Plate-Forme) - Genomics Platform, Institut Pasteur [Paris] (IP), Genoscope - Centre national de séquençage [Evry] (GENOSCOPE), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Architecture et Réactivité de l'ARN (ARN), Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Comparative Genomics Group, CRG-Centre for Genomic Regulation, Service de Microbiologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Institut de Biologie et de Technologies de Saclay (IBITECS), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, MICrobiologie de l'ALImentation au Service de la Santé (MICALIS), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Génétique Moléculaire des Levures, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), funding from the European Research Council under the European Union's Seventh Framework Programme (FP/2007- 2013)/ERC Grant Agreement n.310325, a Grant from the Qatar National Research Fund grant (NPRP 5-298-3-086), and by a grant from the Spanish Ministry of Economy and Competitiveness (BIO2012-37161). CF's research is funded in part by an 'Attractivité' grant from the University Paris Sud. GA is a recipient of a Marie Curie grant (FP7-PEOPLE-2010-IEF-No.274223). SB, HD and RA are recipients of, respectively, a shared post-doctoral grant and a Ph. D. grant, from the Région Ile-de-France's DIM Malinf program. JAC was supported by the Ph.D. Program in Computational Biology of the Instituto Gulbenkian de Ciência, Portugal (sponsored by Fundação Calouste Gulbenkian, Siemens SA, and Fundação para a Ciência e Tecnologia, SFRH/ BD/33528/2008)., European Project: 310325,NONCODEVOL - FP7-IDEAS-ERC, European Project: 274223,EC:FP7:PEOPLE,FP7-PEOPLE-2010-IEF,FUNGI-PATHNCODE(2012), Guitard, Juliette, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Laboratoire Bordelais de Recherche en Informatique (LaBRI), Université de Bordeaux (UB)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Centre National de la Recherche Scientifique (CNRS), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Bicêtre, Mucoviscidose: physiopathologie et phénogénomique [CRSA], Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Parasitologie - Mycologie [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), AgroParisTech-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Génomique évolutive des Microbes / Microbial Evolutionary Genomics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Inria Bordeaux - Sud-Ouest, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Institut Pasteur [Paris], Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Universitat Pompeu Fabra [Barcelona]-Centre for Genomic Regulation (CRG), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR113-Université Pierre et Marie Curie - Paris 6 (UPMC), Génomique (Plate-Forme), Centre National de la Recherche Scientifique (CNRS)-Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Bicêtre, Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), BMC, Ed., Evolutionary genomics of long, non-coding RNAs - NONCODEVOL - FP7-IDEAS-ERC - 310325 - INCOMING, and The genomic basis of emerging fungal pathogenicity - FUNGI-PATHNCODE - - EC:FP7:PEOPLE2012-01-01 - 2013-12-31 - 274223 - VALID
Subjects: Nakaseomyces, Yeast evolution, [SDV]Life Sciences [q-bio], Yeast genomes, Virulence, Genomics, Candida glabrata, Genome, Evolution, Molecular, 03 medical and health sciences, Phylogenetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Genetics, Gene family, Selection, Genetic, Clade, DNA, Fungal, Phylogeny, Fungal pathogens, 030304 developmental biology, Comparative genomics, 0303 health sciences, biology, 030306 microbiology, Càndida, Llevats -- Genètica, Sequence Analysis, DNA, biology.organism_classification, 3. Good health, [SDV] Life Sciences [q-bio], Genòmica, Saccharomycetales, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Genome, Fungal, Biotechnology, Research Article
Abstract: BACKGROUND: Candida glabrata follows C. albicans as the second or third most prevalent cause of candidemia worldwide. These two pathogenic yeasts are distantly related, C. glabrata being part of the Nakaseomyces, a group more closely related to Saccharomyces cerevisiae. Although C. glabrata was thought to be the only pathogenic Nakaseomyces, two new pathogens have recently been described within this group: C. nivariensis and C. bracarensis. To gain insight into the genomic changes underlying the emergence of virulence, we sequenced the genomes of these two, and three other non-pathogenic Nakaseomyces, and compared them to other sequenced yeasts. RESULTS: Our results indicate that the two new pathogens are more closely related to the non-pathogenic N. delphensis than to C. glabrata. We uncover duplications and accelerated evolution that specifically affected genes in the lineage preceding the group containing N. delphensis and the three pathogens, which may provide clues to the higher propensity of this group to infect humans. Finally, the number of Epa-like adhesins is specifically enriched in the pathogens, particularly in C. glabrata. CONCLUSIONS: Remarkably, some features thought to be the result of adaptation of C. glabrata to a pathogenic lifestyle, are present throughout the Nakaseomyces, indicating these are rather ancient adaptations to other environments. Phylogeny suggests that human pathogenesis evolved several times, independently within the clade. The expansion of the EPA gene family in pathogens establishes an evolutionary link between adhesion and virulence phenotypes. Our analyses thus shed light onto the relationships between virulence and the recent genomic changes that occurred within the Nakaseomyces. This work was supported by funding from the European Research Council/nunder the European Union’s Seventh Framework Programme (FP/2007- 2013)/ERC Grant Agreement n.310325, a Grant from the Qatar National Research Fund grant (NPRP 5-298-3-086), and by a grant from the Spanish Ministry of Economy and Competitiveness (BIO2012-37161). CF’s research is/nfunded in part by an “Attractivité” grant from the University Paris Sud. GA is/na recipient of a Marie Curie grant (FP7-PEOPLE-2010-IEF-No.274223). SB, HD and RA are recipients of, respectively, a shared post-doctoral grant and a Ph. D. grant, from the Région Ile-de-France’s DIM Malinf program. JAC was supported by the Ph.D. Program in Computational Biology of the Instituto Gulbenkian de Ciência, Portugal (sponsored by Fundação Calouste Gulbenkian, Siemens SA, and Fundação para a Ciência e Tecnologia; SFRH/BD/33528/2008)
Published: 2013

48. Efficient Prediction of Co-Complexed Proteins Based on Coevolution

Author: Jérôme Azé, Damien M. de Vienne, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Le Cocon, Département PEGASE [LBBE] (PEGASE), Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Recherche en Informatique (LRI), Université Paris-Sud - Paris 11 (UP11)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS), Algorithms and Models for Integrative Biology (AMIB ), Laboratoire d'informatique de l'École polytechnique [Palaiseau] (LIX), Centre National de la Recherche Scientifique (CNRS)-École polytechnique (X)-Centre National de la Recherche Scientifique (CNRS)-École polytechnique (X)-Laboratoire de Recherche en Informatique (LRI), Université Paris-Sud - Paris 11 (UP11)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-Université Paris-Sud - Paris 11 (UP11)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), and École polytechnique (X)-Centre National de la Recherche Scientifique (CNRS)-École polytechnique (X)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Recherche en Informatique (LRI)
Subjects: Structure Prediction, lcsh:Medicine, Sequence alignment, Genomics, Computational biology, Biology, Biochemistry, Protein–protein interaction, Evolution, Molecular, 03 medical and health sciences, Model Organisms, [INFO.INFO-LG]Computer Science [cs]/Machine Learning [cs.LG], Artificial Intelligence, Protein Interaction Mapping, Protein Interaction Maps, Databases, Protein, Protein Interactions, lcsh:Science, Coevolution, 030304 developmental biology, Genetics, Evolutionary Biology, Escherichia Coli, 0303 health sciences, Biological data, Multidisciplinary, lcsh:R, 030302 biochemistry & molecular biology, Computational Biology, Proteins, Experimental data, Genomic Evolution, Comparative Genomics, Ensemble learning, ROC Curve, Flagella, Prokaryotic Models, lcsh:Q, Sequence Analysis, Protein Interaction Map, Research Article
Abstract: International audience; The prediction of the network of protein-protein interactions (PPI) of an organism is crucial for the understanding of biological processes and for the development of new drugs. Machine learning methods have been successfully applied to the prediction of PPI in yeast by the integration of multiple direct and indirect biological data sources. However, experimental data are not available for most organisms. We propose here an ensemble machine learning approach for the prediction of PPI that depends solely on features independent from experimental data. We developed new estimators of the coevolution between proteins and combined them in an ensemble learning procedure.We applied this method to a dataset of known co-complexed proteins in Escherichia coli and compared it to previously published methods. We show that our method allows prediction of PPI with an unprecedented precision of 95.5% for the first 200 sorted pairs of proteins compared to 28.5% on the same dataset with the previous best method.A close inspection of the best predicted pairs allowed us to detect new or recently discovered interactions between chemotactic components, the flagellar apparatus and RNA polymerase complexes in E. coli.
Published: 2012

49. Linkage to the mating-type locus across the genus Microbotryum: insights into nonrecombining chromosomes

Author: Petit, Elsa, Giraud, Tatiana, de Vienne, Damien, Coelho, Marco, Aguileta, Gabriela, Amselem, Joelle, Kreplak, Jonathan, Poulain, Julie, Gavory, Frédérick, Wincker, Patrick, Young, Sarah, Cuomo, Christina, Perlin, Michael, Hood, Michael, Amherst College, Université Paris-Sud - Paris 11 (UP11), Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Centro de Recursos Microbiológicos-Departamento de Ciências da Vida, Faculdade de Ciências e Tecnologia, Centre for Genomic Regulation (CRG), BIOlogie et GEstion des Risques en agriculture (BIOGER), AgroParisTech-Institut National de la Recherche Agronomique (INRA), Unité de Recherche Génomique Info (URGI), Institut National de la Recherche Agronomique (INRA), Genoscope - Centre national de séquençage [Evry] (GENOSCOPE), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Department of Biology, Program on Disease Evolution, University of Louisville, Department of Biology, NSF [DEB 0747222], 'Consortium National de Recherche en Genomique' of the Museum National d'Histoire Naturelle (CNRS IFR 101), 'service de systematique moleculaire' of the Museum National d'Histoire Naturelle (CNRS IFR 101), National Science Foundation (NSF) [National Science Foundation (NSF) grant 0947963], [ANR-09-0064-01], ANR-09-BLAN-0064,FungiSex,Evolution des types sexuels et des chromosomes sexuels chez les champignons(2009), Stockbridge School of Agriculture, University of Massachusetts System (UMASS), AgroParisTech, Université Paris Saclay (COmUE), Ecologie Systématique et Evolution (ESE), Université Paris-Sud - Paris 11 (UP11)-AgroParisTech-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS), Bioinformatique, phylogénie et génomique évolutive (BPGE), Département PEGASE [LBBE] (PEGASE), Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Departamento de Ciencias da Vida (DCV), Faculdade de Ciências e Tecnologia (FCT NOVA), Universidade Nova de Lisboa (NOVA)-Universidade Nova de Lisboa (NOVA), Agroécologie [Dijon], Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université Bourgogne Franche-Comté [COMUE] (UBFC), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut de Génomique d'Evry (IG), Institut de Biologie François JACOB (JACOB), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Broad Institute [Cambridge], Harvard University [Cambridge]-Massachusetts Institute of Technology (MIT), Universitat Pompeu Fabra [Barcelona]-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Centre National de la Recherche Scientifique (CNRS)-AgroParisTech-Université Paris-Sud - Paris 11 (UP11), Universidade Nova de Lisboa = NOVA University Lisbon (NOVA)-Universidade Nova de Lisboa = NOVA University Lisbon (NOVA), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Université de Bourgogne (UB)-Institut National de la Recherche Agronomique (INRA)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, National Science Foundation (NSF) DEB 0747222, National Science Foundation (NSF)National Science Foundation (NSF) grant 094796, and National Science Foundation (NSF)NSF - Directorate for Biological Sciences (BIO) 0947963
Subjects: Recombination, Genetic, mating-type chromosome, DNA, Complementary, Polymorphism, Genetic, gene conversion, Evolutionary strata, Genetic Linkage, [SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE], [SDV]Life Sciences [q-bio], Basidiomycota, Molecular Sequence Data, Sequence Analysis, DNA, Genes, Mating Type, Fungal, Polymerase Chain Reaction, recombination, Receptors, Pheromone, Evolution, Molecular, Fungal Proteins, Species Specificity, sex chromosome, DNA, Fungal, ComputingMilieux_MISCELLANEOUS, Alleles, Phylogeny
Abstract: International audience; Parallels have been drawn between the evolution of nonrecombining regions in fungal mating-type chromosomes and animal and plant sex chromosomes, particularly regarding the stages of recombination cessation forming evolutionary strata of allelic divergence. Currently, evidence and explanations for recombination cessation in fungi are sparse, and the presence of evolutionary strata has been examined in a minimal number of fungal taxa. Here, the basidiomycete genus Microbotryum was used to determine the history of recombination cessation for loci on the mating-type chromosomes. Ancestry of linkage with mating type for 13 loci was assessed across 20 species by a phylogenetic method. No locus was found to exhibit trans-specific polymorphism for alternate alleles as old as the mating pheromone receptor, indicating that ages of linkage to mating type varied among the loci. The ordering of loci in the ancestry of linkage to mating type does not agree with their previously proposed assignments to evolutionary strata. This study suggests that processes capable of influencing divergence between alternate alleles may act at loci in the nonrecombining regions (e.g., gene conversion) and encourages further work to dissect the evolutionary processes acting upon genomic regions that determine mating compatibility.
Published: 2012

50. The CycADS annotation database system to support the development and update of enriched BioCyc databases. Development of ad hoc BioCyc DB : AcypiCyc, ArthopodaCyc

Author: Patrice Baa-Puyoulet, Vellozo, Augusto F., Jaime Huerta-Cepas, Gérard Febvay, Toni Gabaldon, Marie-France Sagot, Hubert CHARLES, Stefano Colella, Biologie Fonctionnelle, Insectes et Interactions (BF2I), Institut National de la Recherche Agronomique (INRA)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA), An algorithmic view on genomes, cells, and environments (BAMBOO), Inria Grenoble - Rhône-Alpes, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Centro de Regulación Genómica (CRG), Universitat Pompeu Fabra [Barcelona] (UPF), Institut National de Recherche en Informatique et en Automatique (INRIA). Rennes, FRA., Université de Lyon, Réseau Biologie Adaptative des Pucerons et des Organismes Associés (BAPOA). FRA., Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Unité de recherche Productions végétales (CRAG ANT PROD V), Institut National de la Recherche Agronomique (INRA), Barcelona Supercomputing Center - Centro Nacional de Supercomputacion (BSC - CNS), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Inria Grenoble - Rhône-Alpes, and Institut National de Recherche en Informatique et en Automatique (Inria)
Subjects: gene annotation, transcriptomics, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, Buchnera, system biology, Acyrthosiphon pisum, metabolic pathways, arthropods, microarray, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], metabolism, ComputingMilieux_MISCELLANEOUS
Abstract: 5-COM (communications sans actes) 1-1-4 Communication congrès (résultats originaux) 6. Congrès; National audience
Published: 2012

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