13 results on '"Patraquim P"'
Search Results
2. The First Myriapod Genome Sequence Reveals Conservative Arthropod Gene Content and Genome Organisation in the Centipede Strigamia maritima
- Author
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Chipman, Ariel D, Ferrier, David EK, Brena, Carlo, Qu, Jiaxin, Hughes, Daniel ST, Schröder, Reinhard, Torres-Oliva, Montserrat, Znassi, Nadia, Jiang, Huaiyang, Almeida, Francisca C, Alonso, Claudio R, Apostolou, Zivkos, Aqrawi, Peshtewani, Arthur, Wallace, Barna, Jennifer CJ, Blankenburg, Kerstin P, Brites, Daniela, Capella-Gutiérrez, Salvador, Coyle, Marcus, Dearden, Peter K, Du Pasquier, Louis, Duncan, Elizabeth J, Ebert, Dieter, Eibner, Cornelius, Erikson, Galina, Evans, Peter D, Extavour, Cassandra G, Francisco, Liezl, Gabaldón, Toni, Gillis, William J, Goodwin-Horn, Elizabeth A, Green, Jack E, Griffiths-Jones, Sam, Grimmelikhuijzen, Cornelis JP, Gubbala, Sai, Guigó, Roderic, Han, Yi, Hauser, Frank, Havlak, Paul, Hayden, Luke, Helbing, Sophie, Holder, Michael, Hui, Jerome HL, Hunn, Julia P, Hunnekuhl, Vera S, Jackson, LaRonda, Javaid, Mehwish, Jhangiani, Shalini N, Jiggins, Francis M, Jones, Tamsin E, Kaiser, Tobias S, Kalra, Divya, Kenny, Nathan J, Korchina, Viktoriya, Kovar, Christie L, Kraus, F Bernhard, Lapraz, François, Lee, Sandra L, Lv, Jie, Mandapat, Christigale, Manning, Gerard, Mariotti, Marco, Mata, Robert, Mathew, Tittu, Neumann, Tobias, Newsham, Irene, Ngo, Dinh N, Ninova, Maria, Okwuonu, Geoffrey, Ongeri, Fiona, Palmer, William J, Patil, Shobha, Patraquim, Pedro, Pham, Christopher, Pu, Ling-Ling, Putman, Nicholas H, Rabouille, Catherine, Ramos, Olivia Mendivil, Rhodes, Adelaide C, Robertson, Helen E, Robertson, Hugh M, Ronshaugen, Matthew, Rozas, Julio, Saada, Nehad, Sánchez-Gracia, Alejandro, Scherer, Steven E, Schurko, Andrew M, Siggens, Kenneth W, Simmons, DeNard, Stief, Anna, Stolle, Eckart, Telford, Maximilian J, Tessmar-Raible, Kristin, Thornton, Rebecca, van der Zee, Maurijn, von Haeseler, Arndt, Williams, James M, Willis, Judith H, Wu, Yuanqing, and Zou, Xiaoyan
- Subjects
Biological Sciences ,Bioinformatics and Computational Biology ,Genetics ,Human Genome ,Biotechnology ,Prevention ,1.1 Normal biological development and functioning ,Underpinning research ,Generic health relevance ,Animals ,Arthropods ,Circadian Rhythm Signaling Peptides and Proteins ,DNA Methylation ,Evolution ,Molecular ,Female ,Genome ,Genome ,Mitochondrial ,Hormones ,Male ,Multigene Family ,Phylogeny ,Polymorphism ,Genetic ,Protein Kinases ,RNA ,Untranslated ,Receptors ,Odorant ,Selenoproteins ,Sex Chromosomes ,Synteny ,Transcription Factors ,Agricultural and Veterinary Sciences ,Medical and Health Sciences ,Developmental Biology ,Agricultural ,veterinary and food sciences ,Biological sciences ,Biomedical and clinical sciences - Abstract
Myriapods (e.g., centipedes and millipedes) display a simple homonomous body plan relative to other arthropods. All members of the class are terrestrial, but they attained terrestriality independently of insects. Myriapoda is the only arthropod class not represented by a sequenced genome. We present an analysis of the genome of the centipede Strigamia maritima. It retains a compact genome that has undergone less gene loss and shuffling than previously sequenced arthropods, and many orthologues of genes conserved from the bilaterian ancestor that have been lost in insects. Our analysis locates many genes in conserved macro-synteny contexts, and many small-scale examples of gene clustering. We describe several examples where S. maritima shows different solutions from insects to similar problems. The insect olfactory receptor gene family is absent from S. maritima, and olfaction in air is likely effected by expansion of other receptor gene families. For some genes S. maritima has evolved paralogues to generate coding sequence diversity, where insects use alternate splicing. This is most striking for the Dscam gene, which in Drosophila generates more than 100,000 alternate splice forms, but in S. maritima is encoded by over 100 paralogues. We see an intriguing linkage between the absence of any known photosensory proteins in a blind organism and the additional absence of canonical circadian clock genes. The phylogenetic position of myriapods allows us to identify where in arthropod phylogeny several particular molecular mechanisms and traits emerged. For example, we conclude that juvenile hormone signalling evolved with the emergence of the exoskeleton in the arthropods and that RR-1 containing cuticle proteins evolved in the lineage leading to Mandibulata. We also identify when various gene expansions and losses occurred. The genome of S. maritima offers us a unique glimpse into the ancestral arthropod genome, while also displaying many adaptations to its specific life history.
- Published
- 2014
3. Developmental regulation of canonical and small ORF translation from mRNAs
- Author
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Patraquim, Pedro, Mumtaz, Muhammad Ali Shahzad, Pueyo, José Ignacio, Aspden, Julie Louise, and Couso, Juan-Pablo
- Published
- 2020
- Full Text
- View/download PDF
4. Una causa poco común de paraplejia
- Author
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Oliveira Pereira, Mariana, Patraquim, Cláudia, Almeida, Rui, and Gonçalves, Augusta
- Published
- 2024
- Full Text
- View/download PDF
5. The first myriapod genome sequence reveals conservative arthropod gene content in the centipede Strigamia maritima
- Author
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Chipman, A.D., Ferrier, D.E.K., Brena, C., Qu, J., Hughes, D.S.T., Schroeder, R., Torres-Oliva, M., Znassi, N., Jiang, H., Almeida, F.C., Alonso, C.R., Apostolou, Z., Aqrawi, P., Arthur, W., Barna, J.C.J., Blankenburg, K.P., Brites, D., Capella-Gutierrez, S., Coyle, M., Dearden, P.K., Du Pasquier, L., Duncan, E.J., Ebert, D., Eibner, C., Erikson, G., Evans, P.D., Extavour, C.G., Francisco, L., Gabaldon, T., Gillis, W.J., Goodwin-Horn, E.A., Green, J.E., Griffiths-Jones, S., Grimmelikhuijzen, C.J.P., Gubbala, S., Guigo, R., Han, Y., Hauser, F., Havlak, P., Hayden, L., Helbing, S., Holder, M., Hui, J.H.L., Hunn, J.P., Hunnekuhl, V.S., Jackson, L., Javaid, M., Jhangiani, S.N., Jiggins, F.M., Jones, T.E., Kaiser, T.S., Kalra, D., Kenny, N.J., Korchina, V., Kovar, C.L., Kraus, F.B., Lapraz, F., Lee, S.L., Lv, J., Mandapat, C., Manning, G., Mariotti, M., Mata, R., Mathew, T., Neumann, T., Newsham, I., Ngo, D.N., Ninova, M., Okwuonu, G., Ongeri, F., Palmer, W.J., Patil, S., Patraquim, P., Pham, C., Pu, L.L., Putman, N.H., Rabouille, C., Ramos, O.M., Rhodes, A.C., Robertson, H.E., Robertson, H.M., Ronshaugen, M., Rozas, J., Saada, N., Sanchez-Gracia, A., Scherer, S.E., Schurko, A.M., Siggens, K.W., Simmons, D., Stief, A., Stolle, E., Telford, M.J., Tessmar-Raible, K., Thornton, R., Zee, M. van der, Von Haeseler, A., Williams, J.M., Willis, J.H., Wu, Y., Zou, X., Lawson, D., Muzny, D.M., Worley, K.C., Gibbs, R.A., Akam, M., and Richards, S.
- Published
- 2014
6. Classification and function of small open reading frames
- Author
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Couso, Juan-Pablo and Patraquim, Pedro
- Abstract
Small open reading frames (smORFs) of 100 codons or fewer are usually — if arbitrarily — excluded from proteome annotations. Despite this, the genomes of many metazoans, including humans, contain millions of smORFs, some of which fulfil key physiological functions. Recently, the transcriptome of Drosophila melanogaster was shown to contain thousands of smORFs of different classes that actively undergo translation, which produces peptides of mostly unknown function. Here, we present a comprehensive analysis of smORFs in flies, mice and humans. We propose the existence of several functional classes of smORFs, ranging from inert DNA sequences to transcribed and translated cis-regulators of translation and peptides with a propensity to function as regulators of membrane-associated proteins, or as components of ancient protein complexes in the cytoplasm. We suggest that the different smORF classes could represent steps in gene, peptide and protein evolution. Our analysis introduces a distinction between different peptide-coding classes of smORFs in animal genomes, and highlights the role of model organisms for the study of small peptide biology in the context of development, physiology and human disease.
- Published
- 2017
- Full Text
- View/download PDF
7. The First Myriapod Genome Sequence Reveals Conservative Arthropod Gene Content and Genome Organisation in the Centipede Strigamia maritima
- Author
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Chipman, Ariel D., Ferrier, David E. K., Brena, Carlo, Qu, Jiaxin, Hughes, Daniel S. T., Schröder, Reinhard, Torres-Oliva, Montserrat, Znassi, Nadia, Jiang, Huaiyang, Almeida, Francisca C., Alonso, Claudio R., Apostolou, Zivkos, Aqrawi, Peshtewani, Arthur, Wallace, Barna, Jennifer C. J., Blankenburg, Kerstin P., Brites, Daniela, Capella-Gutiérrez, Salvador, Coyle, Marcus, Dearden, Peter K., Du Pasquier, Louis, Duncan, Elizabeth J., Ebert, Dieter, Eibner, Cornelius, Erikson, Galina, Evans, Peter D., Extavour, Cassandra G., Francisco, Liezl, Gabaldón, Toni, Gillis, William J., Goodwin-Horn, Elizabeth A., Green, Jack E., Griffiths-Jones, Sam, Grimmelikhuijzen, Cornelis J. P., Gubbala, Sai, Guigó, Roderic, Han, Yi, Hauser, Frank, Havlak, Paul, Hayden, Luke, Helbing, Sophie, Holder, Michael, Hui, Jerome H. L., Hunn, Julia P., Hunnekuhl, Vera S., Jackson, LaRonda, Javaid, Mehwish, Jhangiani, Shalini N., Jiggins, Francis M., Jones, Tamsin E., Kaiser, Tobias S., Kalra, Divya, Kenny, Nathan J., Korchina, Viktoriya, Kovar, Christie L., Kraus, F. Bernhard, Lapraz, François, Lee, Sandra L., Lv, Jie, Mandapat, Christigale, Manning, Gerard, Mariotti, Marco, Mata, Robert, Mathew, Tittu, Neumann, Tobias, Newsham, Irene, Ngo, Dinh N., Ninova, Maria, Okwuonu, Geoffrey, Ongeri, Fiona, Palmer, William J., Patil, Shobha, Patraquim, Pedro, Pham, Christopher, Pu, Ling-Ling, Putman, Nicholas H., Rabouille, Catherine, Ramos, Olivia Mendivil, Rhodes, Adelaide C., Robertson, Helen E., Robertson, Hugh M., Ronshaugen, Matthew, Rozas, Julio, Saada, Nehad, Sánchez-Gracia, Alejandro, Scherer, Steven E., Schurko, Andrew M., Siggens, Kenneth W., Simmons, DeNard, Stief, Anna, Stolle, Eckart, Telford, Maximilian J., Tessmar-Raible, Kristin, Thornton, Rebecca, van der Zee, Maurijn, von Haeseler, Arndt, Williams, James M., Willis, Judith H., Wu, Yuanqing, Zou, Xiaoyan, Lawson, Daniel, Muzny, Donna M., Worley, Kim C., Gibbs, Richard A., Akam, Michael, and Richards, Stephen
- Subjects
Biology and Life Sciences ,Computational Biology ,Comparative Genomics ,Genome Complexity ,Genome Evolution ,Evolutionary Biology ,Organismal Evolution ,Animal Evolution ,Evolutionary Genetics ,Evolutionary Immunology ,Genetics ,Genomics ,Molecular Biology ,Molecular Biology Techniques ,Sequencing Techniques ,Genome Sequencing - Abstract
Myriapods (e.g., centipedes and millipedes) display a simple homonomous body plan relative to other arthropods. All members of the class are terrestrial, but they attained terrestriality independently of insects. Myriapoda is the only arthropod class not represented by a sequenced genome. We present an analysis of the genome of the centipede Strigamia maritima. It retains a compact genome that has undergone less gene loss and shuffling than previously sequenced arthropods, and many orthologues of genes conserved from the bilaterian ancestor that have been lost in insects. Our analysis locates many genes in conserved macro-synteny contexts, and many small-scale examples of gene clustering. We describe several examples where S. maritima shows different solutions from insects to similar problems. The insect olfactory receptor gene family is absent from S. maritima, and olfaction in air is likely effected by expansion of other receptor gene families. For some genes S. maritima has evolved paralogues to generate coding sequence diversity, where insects use alternate splicing. This is most striking for the Dscam gene, which in Drosophila generates more than 100,000 alternate splice forms, but in S. maritima is encoded by over 100 paralogues. We see an intriguing linkage between the absence of any known photosensory proteins in a blind organism and the additional absence of canonical circadian clock genes. The phylogenetic position of myriapods allows us to identify where in arthropod phylogeny several particular molecular mechanisms and traits emerged. For example, we conclude that juvenile hormone signalling evolved with the emergence of the exoskeleton in the arthropods and that RR-1 containing cuticle proteins evolved in the lineage leading to Mandibulata. We also identify when various gene expansions and losses occurred. The genome of S. maritima offers us a unique glimpse into the ancestral arthropod genome, while also displaying many adaptations to its specific life history.
- Published
- 2014
- Full Text
- View/download PDF
8. A Pediatric Case of Cowden Syndrome with Graves’ Disease
- Author
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Patraquim, Cláudia, Fernandes, Vera, Martins, Sofia, Antunes, Ana, Marques, Olinda, Luís Carvalho, José, Correia-Pinto, Jorge, Meireles, Carla, and Margarida Ferreira, Ana
- Abstract
Cowden syndrome (CS) is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN) is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves’ disease (GD). At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On examination, he had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses, leg hemangioma, and a diffusely enlarged thyroid gland. He started antithyroid drug (ATD) therapy with methimazole and, after a 2-year treatment period without achieving a remission status, a total thyroidectomy was performed. Diagnosis and management of CS should be multidisciplinary. Thyroid disease is frequent, but its management has yet to be fully defined. The authors present a case report of a pediatric patient with CS and GD and discuss treatment options.
- Published
- 2017
- Full Text
- View/download PDF
9. Childhood Hypopigmented Mycosis Fungoides: A Rare Diagnosis
- Author
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Patraquim, Cláudia, Miguel Gomes, Maria, Garcez, Carla, Leite, Filipa, Oliva, Tereza, Santos, António, and Pinto, Armando
- Abstract
Primary cutaneous lymphomas (PCL) are rare in pediatrics. Mycosis fungoides (MF) is the most frequent PCL diagnosed in childhood. There are various clinical variants of MF, including the hypopigmented MF (HMF). We present a 5-year-old boy with an 18-month history of progressive, generalized, nonpruritic hypopigmented lesions with central lacy erythema. He had no improvement with emollients. Skin biopsy showed typical features of HMF. He was treated with topical corticosteroids and tacrolimus and narrow-band ultraviolet B (NBUVB) phototherapy, with good response. HMF may mimic multiple skin disorders. Unusual hypopigmented skin lesions should be biopsied. Though phototherapy is effective, recurrence is common.
- Published
- 2016
- Full Text
- View/download PDF
10. Pervasive Behavioral Effects of MicroRNA Regulation in Drosophila .
- Author
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Picao-Osorio J, Lago-Baldaia I, Patraquim P, and Alonso CR
- Subjects
- Animals, Drosophila genetics, Drosophila growth & development, Drosophila physiology, Drosophila Proteins genetics, Drosophila Proteins metabolism, Homeodomain Proteins genetics, Homeodomain Proteins metabolism, Larva metabolism, Larva physiology, Mutation, Behavior, Animal, MicroRNAs genetics, Movement
- Abstract
The effects of microRNA (miRNA) regulation on the genetic programs underlying behavior remain largely unexplored. Despite this, recent work in Drosophila shows that mutation of a single miRNA locus (miR-iab4/iab8) affects the capacity of the larva to correct its orientation if turned upside down (self-righting, SR), suggesting that other miRNAs might also be involved in behavioral control. Here we explore this possibility, studying early larval SR behavior in a collection of 81 Drosophila miRNA mutants covering almost the entire miRNA complement of the late embryo. Unexpectedly, we observe that >40% of all miRNAs tested significantly affect SR time, revealing pervasive behavioral effects of miRNA regulation in the early larva. Detailed analyses of those miRNAs affecting SR behavior (SR-miRNAs) show that individual miRNAs can affect movement in different ways, suggesting that specific molecular and cellular elements are affected by individual miRNA mutations. Furthermore, gene expression analysis shows that the Hox gene Abdominal-B ( Abd-B ) represents one of the targets deregulated by several SR-miRNAs. Our work thus reveals pervasive effects of miRNA regulation on a complex innate behavior in Drosophila and suggests that miRNAs may be core components of the genetic programs underlying behavioral control in other animals too., (Copyright © 2017 Picao-Osorio et al.)
- Published
- 2017
- Full Text
- View/download PDF
11. The RNA-binding protein ELAV regulates Hox RNA processing, expression and function within the Drosophila nervous system.
- Author
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Rogulja-Ortmann A, Picao-Osorio J, Villava C, Patraquim P, Lafuente E, Aspden J, Thomsen S, Technau GM, and Alonso CR
- Subjects
- Animals, Base Sequence, Drosophila Proteins genetics, Drosophila Proteins metabolism, Drosophila melanogaster genetics, Embryo, Nonmammalian, Gene Expression Regulation, Developmental, Homeodomain Proteins genetics, Homeodomain Proteins metabolism, Molecular Sequence Data, Morphogenesis genetics, Nervous System metabolism, Neurogenesis genetics, Phylogeny, Transcription Factors genetics, Transcription Factors metabolism, Drosophila Proteins physiology, Drosophila melanogaster embryology, ELAV Proteins physiology, Genes, Homeobox, Nervous System embryology, RNA Processing, Post-Transcriptional
- Abstract
The regulated head-to-tail expression of Hox genes provides a coordinate system for the activation of specific programmes of cell differentiation according to axial level. Recent work indicates that Hox expression can be regulated via RNA processing but the underlying mechanisms and biological significance of this form of regulation remain poorly understood. Here we explore these issues within the developing Drosophila central nervous system (CNS). We show that the pan-neural RNA-binding protein (RBP) ELAV (Hu antigen) regulates the RNA processing patterns of the Hox gene Ultrabithorax (Ubx) within the embryonic CNS. Using a combination of biochemical, genetic and imaging approaches we demonstrate that ELAV binds to discrete elements within Ubx RNAs and that its genetic removal reduces Ubx protein expression in the CNS leading to the respecification of cellular subroutines under Ubx control, thus defining for the first time a specific cellular role of ELAV within the developing CNS. Artificial provision of ELAV in glial cells (a cell type that lacks ELAV) promotes Ubx expression, suggesting that ELAV-dependent regulation might contribute to cell type-specific Hox expression patterns within the CNS. Finally, we note that expression of abdominal A and Abdominal B is reduced in elav mutant embryos, whereas other Hox genes (Antennapedia) are not affected. Based on these results and the evolutionary conservation of ELAV and Hox genes we propose that the modulation of Hox RNA processing by ELAV serves to adapt the morphogenesis of the CNS to axial level by regulating Hox expression and consequently activating local programmes of neural differentiation.
- Published
- 2014
- Full Text
- View/download PDF
12. Evolution of Hox post-transcriptional regulation by alternative polyadenylation and microRNA modulation within 12 Drosophila genomes.
- Author
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Patraquim P, Warnefors M, and Alonso CR
- Subjects
- Animals, Computational Biology, Conserved Sequence, Evolution, Molecular, Gene Expression Regulation, Genome, Insect, Polyadenylation genetics, RNA, Messenger genetics, 3' Untranslated Regions genetics, Drosophila Proteins genetics, Drosophila melanogaster genetics, Genes, Homeobox genetics, Homeodomain Proteins genetics, MicroRNAs genetics, RNA Processing, Post-Transcriptional, Transcription Factors genetics
- Abstract
Hox genes encode a family of transcriptional regulators that operate differential developmental programs along the anteroposterior axis of bilateral animals. Regulatory changes affecting Hox gene expression are believed to have been crucial for the evolution of animal body plans. In Drosophila melanogaster, Hox expression is post-transcriptionally regulated by microRNAs (miRNAs) acting on target sites located in the 3' untranslated regions (3'UTRs) of Hox mRNAs. Notably, recent work has shown that during D. melanogaster development Hox genes produce mRNAs with variable 3'UTRs (short and long forms) in different sets of tissues as a result of alternative polyadenylation; importantly, Hox short and long 3'UTRs contain very different target sites for miRNAs. Here, we use a computational approach to explore the evolution of Hox 3'UTRs treated with especial regard to miRNA regulation. Our work is focused on the 12 Drosophila species for which genomic sequences are available and shows, first, that alternative polyadenylation of Hox transcripts is a feature shared by all drosophilids tested in the study. Second, that the regulatory impact of miRNAs is evolving very fast within the Drosophila group. Third, that in contrast to the low degree of primary sequence conservation, Hox 3'UTR regions within the group show very similar RNA topology indicating that RNA structure is under strong selective pressure. Finally, we also demonstrate that Hox alternative polyadenylation can remodel the control regions seen by miRNAs by at least two mechanisms: via adding new cis-regulatory sequences-in the form of miRNA target sites-to short 3'UTR forms as well as by modifying the regulatory impact of miRNA target sites in short 3'UTR forms through changes in RNA secondary structure caused by the use of distal polyadenylation signals.
- Published
- 2011
- Full Text
- View/download PDF
13. Plant-microbe symbioses: new insights into common roots.
- Author
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Lima PT, Faria VG, Patraquim P, Ramos AC, Feijó JA, and Sucena E
- Subjects
- Calcium metabolism, Evolution, Molecular, Fungi genetics, Genes, Plant, Models, Biological, Models, Genetic, Models, Theoretical, Phylogeny, Plant Roots genetics, Plants genetics, Plants microbiology, Signal Transduction, Mycorrhizae genetics, Symbiosis genetics
- Abstract
Arbuscular mycorrhiza (AM), a type of plant-fungal endosymbiosis, and nodulation, a bacterial-plant endosymbiosis, are the most ubiquitous symbioses on earth. Recent findings have established part of a shared genetic basis underlying these interactions. Here, we approach root endosymbioses through the lens of the homology and modularity concepts aiming at further clarifying the proximate and ultimate causes for the establishment of these biological systems. We review the genetics that underlie interspecific signaling and its concomitant shift in genetic programs for either partner. Also, through the comparative analysis of genetic modules shared by AM and nodulation symbioses, we identify fundamental nodes in these networks, suggesting the elemental steps that may have permitted symbiotic adaptation. Here, we show that this approach, allied to recent technical advances in the study of genetic systems architecture, can provide clear testable hypotheses for the advancement of our understanding on the evolution and development of symbiotic systems.
- Published
- 2009
- Full Text
- View/download PDF
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