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Chemoreception is critical for the survival and reproduction of animals. Except for a reduced group of insects and spiders, the molecular identity of chemosensory proteins is poorly understood in invertebrates. Gastropoda is the extant mollusk class with the greatest species richness, including marine, freshwater, and terrestrial lineages, and likely, highly diverse chemoreception systems. Here, we performed a comprehensive comparative genome analysis taking advantage of the chromosome-level information of two Gastropoda species, one of which belongs to a lineage that underwent a whole genome duplication event. We identified thousands of previously uncharacterized chemosensory-related genes, the majority of them encoding G protein-coupled receptors (GPCR), mostly organized into clusters distributed across all chromosomes. We also detected gene families encoding degenerin epithelial sodium channels (DEG-ENaC), ionotropic receptors (IR), sensory neuron membrane proteins (SNMP), Niemann–Pick type C2 (NPC2) proteins, and lipocalins, although much smaller in size. Our phylogenetic analysis of the GPCR gene family across protostomes revealed: (i) large gene family expansions in Gastropoda; (ii) clades including members from all protostomes; and (iii) species-specific clades with a huge number of receptors. For the first time, we provide new and valuable knowledge into the evolution of the chemosensory gene families in invertebrates other than arthropods.

Here, we present the chromosome-level genome assembly of Dysdera silvatica Schmidt, 1981, a nocturnal ground-dwelling spider endemic from the Canary Islands. The genus Dysdera has undergone a remarkable diversification in this archipelago mostly associated with shifts in the level of trophic specialization, becoming an excellent model to study the genomic drivers of adaptive radiations. The new assembly (1.37 Gb; scaffold N50 of 174.2 Mb), was performed using the chromosome conformation capture scaffolding technique, represents a continuity improvement of more than 4500 times with respect to the previous version. The seven largest scaffolds or pseudochromosomes, which cover 87% of the total assembly size, probably correspond with the seven chromosomes of the karyotype of this species, including a characteristic large X chromosome. To illustrate the value of this new resource we performed a comprehensive analysis of the two major arthropod chemoreceptor gene families (i.e., gustatory and ionotropic receptors). We identified 545 chemoreceptor sequences distributed across all pseudochromosomes, with a notable underrepresentation in the X chromosome. At least 54% of them localize in 83 genomic clusters with a significantly lower evolutionary distances between them than the average of the family, suggesting a recent origin of many of them. This chromosome-level assembly is the first high-quality genome representative of the Synspermiata clade, and just the third among spiders, representing a new valuable resource to gain insights into the structure and organization of chelicerate genomes, including the role that structural variants, repetitive elements and large gene families played in the extraordinary biology of spiders.

Chemosensory perception is a fundamental biological process of particular relevance in basic and applied arthropod research. However, apart from insects, there is little knowledge of specific molecules involved in this system, which is restricted to a few taxa with uneven phylogenetic sampling across lineages. From an evolutionary perspective, onychophorans (velvet worms) and tardigrades (water bears) are of special interest since they represent the closest living relatives of arthropods, altogether comprising the Panarthropoda. To get insights into the evolutionary origin and diversification of the chemosensory gene repertoire in panarthropods, we sequenced the antenna- and head-specific transcriptomes of the velvet worm Euperipatoides rowelli and analyzed members of all major chemosensory families in representative genomes of onychophorans, tardigrades, and arthropods. Our results suggest that the NPC2 gene family was the only family encoding soluble proteins in the panarthropod ancestor and that onychophorans might have lost many arthropod-like chemoreceptors, including the highly conserved IR25a receptor of protostomes. On the other hand, the eutardigrade genomes lack genes encoding the DEG-ENaC and CD36-sensory neuron membrane proteins, the chemosensory members of which have been retained in arthropods; these losses might be related to lineage-specific adaptive strategies of tardigrades to survive extreme environmental conditions. Although the results of this study need to be further substantiated by an increased taxon sampling, our findings shed light on the diversification of chemosensory gene families in Panarthropoda and contribute to a better understanding of the evolution of animal chemical senses., This work was supported by the Ministerio de Economía y Competitividad of Spain (CGL2013-45211 and CGL2016-75255) and the Comissió Interdepartamental de Recerca I Innovació Tecnològica of Catalonia, Spain (2017SGR1287). J.V. and P.E. were supported by an FPI grant (Ministerio de Economía y Competitividad of Spain, BES-2014-068437 and BES-2017-081740, respectively). G.M. received support from the German Research Foundation (DFG: MA 4147/10-1).

Gene annotation is a critical bottleneck in genomic research, especially for the comprehensive study of very large gene families in the genomes of nonmodel organisms. Despite the recent progress in automatic methods, state‐of‐the‐art tools used for this task often produce inaccurate annotations, such as fused, chimeric, partial or even completely absent gene models for many family copies, errors that require considerable extra efforts to be corrected. Here we present bitacora , a bioinformatics solution that integrates popular sequence similarity‐based search tools and Perl scripts to facilitate both the curation of these inaccurate annotations and the identification of previously undetected gene family copies directly in genomic DNA sequences. We tested the performance of bitacora in annotating the members of two chemosensory gene families with different repertoire size in seven available genome sequences, and compared its performance with that of augustus‐ppx , a tool also designed to improve automatic annotations using a sequence similarity‐based approach. Despite the relatively high fragmentation of some of these drafts, bitacora was able to improve the annotation of many members of these families and detected thousands of new chemoreceptors encoded in genome sequences. The program creates general feature format (GFF) files, with both curated and newly identified gene models, and FASTA files with the predicted proteins. These outputs can be easily integrated in genomic annotation editors, greatly facilitating subsequent manual annotation and downstream evolutionary analyses.

The Xerces Blue (Glaucopsyche xerces) is considered to be the first butterfly to become extinct at global scale in historical times. It was notable for its chalky lavender wings with conspicuous white spots on the ventral wings. The last individuals were collected in their restricted habitat, in the dunes near the Presidio military base in San Francisco, in 1941. To explore the demographic history of this iconic butterfly and to better understand why it went extinct, we sequenced at medium coverage the genomes of four 80 to 100-year-old Xerces Blue specimens and seven historic specimens of its closest relative, the Silvery Blue (G. lygdamus). We compared these to a novel annotated genome of the Green-Underside Blue (G. alexis). Phylogenetic relationships inferred from complete mitochondrial genomes indicate that Xerces Blue was a distinct species that diverged from the Silvery Blue lineage at least 850,000 years ago. Using nuclear genomes, we show that both species experienced population growth during the MIS 7 interglacial period, but the Xerces Blue decreased to a very low effective population size subsequently, a trend opposite to that observed in the Silvery Blue. Runs of homozygosity in the Xerces Blue were significantly greater than in the Silvery Blue, suggesting a higher incidence of inbreeding. In addition, the Xerces Blue carried a higher proportion of derived, putatively deleterious amino acid-changing alleles than the Silvery Blue. These results demonstrate that the Xerces Blue experienced more than 100 thousand years of population decline, prior to its human-induced final extinction.

The coexistence of multiple eco-phenotypes in independently assembled communities makes island adaptive radiations the ideal framework to test convergence and parallelism in evolution. In the radiation of the spider genus Dysdera in the Canary Islands, species diversification occurs concomitant with repeated events of trophic specialization. These dietary shifts, to feed primarily on woodlice, are accompanied by modifications in morphology (mostly in the mouthparts), behaviour and nutritional physiology. To gain insight into the molecular basis of this adaptive radiation, we performed a comprehensive comparative transcriptome analysis of five Canary Island Dysdera endemics representing two evolutionary and geographically independent events of dietary specialization. After controlling for the potential confounding effects of hemiplasy, our differential gene expression and selective constraint analyses identified a number of genetic changes that could be associated with the repeated adaptations to specialized diet of woodlice, including some related to heavy metal detoxification and homeostasis, the metabolism of some important nutrients and venom toxins. Our results shed light on the genomic basis of an extraordinary case of dietary shift convergence associated with species diversification. We uncovered putative molecular substrates of convergent evolutionary changes at different hierarchical levels, including specific genes, genes with equivalent functions and even particular amino acid positions. This study improves our knowledge of rapid adaptive radiations and provides new insights into the predictability of evolution., This work was supported by the Ministerio de Economía y Competitividad of Spain (CGL2012‐36863, CGL2013‐45211, CGL2016‐75255 and CGL2016‐80651) and the Comissió Interdepartamental de Recerca I Innovació Tecnològica of Catalonia, Spain (2014SGR1055 and 2014SGR1604). J.V. was supported by a FPI grant (Ministerio de Economía y Competitividad of Spain, BES‐2014‐068437). We acknowledge the Cabildos of Tenerife, Gran Canaria and La Gomera, as well as the Garajonay National Park that have granted us collection permits, and often also helped with lodging and logistics during campaigns.

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.

Gene expression datasets are usually of high dimensionality and therefore require efficient and effective methods for identifying the relative importance of their attributes. Due to the huge size of the search space of the possible solutions, the attribute subset evaluation feature selection methods tend to be not applicable, so in these scenarios feature ranking methods are used. Most of the feature ranking methods described in the literature are univariate methods, so they do not detect interactions between factors. In this paper we propose two new multivariate feature ranking methods based on pairwise correlation and pairwise consistency, which we have applied in three gene expression classification problems. We statistically prove that the proposed methods outperform the state of the art feature ranking methods Clustering Variation, Chi Squared, Correlation, Information Gain, ReliefF and Significance, as well as feature selection methods of attribute subset evaluation based on correlation and consistency with multi-objective evolutionary search strategy.

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.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.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.

Identifying protein-coding genes from genome and transcriptome data is the first and one of the most important steps towards their comprehensive study. This chapter introduces both general procedures for sequence mining, and specific approaches for recognizing characteristic motives and chemical properties in soluble proteins potentially involved in arthropod chemical communication. We describe (i) the workflow to identify members of the OBP (Odorant-Binding Proteins) and CSP (Chemosensory Proteins) families in genomic and transcriptomic sequences using our recently developed bioinformatic solution, BITACORA, and (ii) the main further steps to visualize and to accurately annotate these genes in the Apollo genome browser. The success of further biochemical, functional and evolutionary analyses largely depends on the quality of these initial steps.

The evolution of winged insects revolutionized terrestrial ecosystems and led to the largest animal radiation on Earth. However, we still have an incomplete picture of the genomic changes that underlay this diversification. Mayflies, as one of the sister groups of all other winged insects, are key to understanding this radiation. Here, we describe the genome of the mayfly Cloeon dipterum and its gene expression throughout its aquatic and aerial life cycle and specific organs. We discover an expansion of odorant-binding-protein genes, some expressed specifically in breathing gills of aquatic nymphs, suggesting a novel sensory role for this organ. In contrast, flying adults use an enlarged opsin set in a sexually dimorphic manner, with some expressed only in males. Finally, we identify a set of wing-associated genes deeply conserved in the pterygote insects and find transcriptomic similarities between gills and wings, suggesting a common genetic program. Globally, this comprehensive genomic and transcriptomic study uncovers the genetic basis of key evolutionary adaptations in mayflies and winged insects., This project was mainly funded by the European Union’s Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie Grant Agreement 657732 to I.A., Grant BFU2015-66040-P to F.Ca., institutional Grant MDM-2016-0687 (MINECO, Spain). Additional funding was provided by the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation program (ERC-StG-LS2-637591 to M.I.), the Spanish Ministerio de Ciencia (BFU2017-89201-P to M.I., RYC-2016-20089 and PGC2018-099392-A-I00 to I.M.).

El sistema de pensiones de la Seguridad Social es un sistema de reparto en el que la población activa cotiza a lo largo de su vida laboral y genera una serie de derechos que le permiten posteriormente recibir una pensión contributiva. En ocasiones, las carreras de cotización dan lugar a pensiones en cuantías bajas, bien porque se ha cotizado durante poco tiempo o porque las bases de cotización fueron limitadas. Para evitar que la cuantía de las pensiones no cubra unos mínimos necesarios para proporcionar un nivel de vida digno, se regulan los denominados complementos por mínimos, que elevan la cuantía de la pensión contributiva hasta unos determinados niveles. A pesar de todo, las denominadas pensiones mínimas contributivas no solucionan el nivel de pobreza de todos los individuos mayores de 65, ya que los que están en riesgo de pobreza suelen ser aquellos que no cotizaron suficiente para tener derecho a una pensión contributiva. En todo caso, los complementos por mínimos se configuran como un elemento fundamental del sistema de pensiones contributivas para alcanzar un nivel de vida adecuado a miles de pensionistas españoles.

Identifying protein-coding genes from genome and transcriptome data is the first and one of the most important steps towards their comprehensive study. This chapter introduces both general procedures for sequence mining, and specific approaches for recognizing characteristic motives and chemical properties in soluble proteins potentially involved in arthropod chemical communication. We describe (i) the workflow to identify members of the OBP (Odorant-Binding Proteins) and CSP (Chemosensory Proteins) families in genomic and transcriptomic sequences using our recently developed bioinformatic solution, BITACORA, and (ii) the main further steps to visualize and to accurately annotate these genes in the Apollo genome browser. The success of further biochemical, functional and evolutionary analyses largely depends on the quality of these initial steps.

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.

Resumen del trabajo presentado al VII Biennial Congress of the Spanish Society for Evolutionary Biology (Sociedad Española de Biología Evolutiva), celebrado en Sevilla del 5 al 7 de febrero de 2020.

The first winged insects underwent profound morphological and functional transformations leading to the most successful animal radiations in the history of earth. Despite this, we still have a very incomplete picture of the changes in their genomes that underlay this radiation. Mayflies (Ephemeroptera) are one of the extant sister groups of all other winged insects and therefore are at a key phylogenetic position to understand this radiation. Here, we describe the genome of the cosmopolitan mayfly Cloeon dipterum and study its expression along development and in specific organs. We discover an expansion of odorant-binding proteins, some expressed specifically in the breathing gills of aquatic nymphs, suggesting a novel sensory role for gills. In contrast, as flying adults, mayflies make use of an enlarged set of opsins and utilise these visual genes in a sexually dimorphic manner, with some opsins expressed only in males. Finally, to illuminate the origin of wings, we identify a core set of deeply conserved wing-specific genes at the root of the pterygote insects. Globally, this is the first comprehensive study of the structure and expression of the genome of a paleopteran insect and shows how its genome has kept a record of its functional adaptations.

Resumen del trabajo presentado en el European Developmental Biology Congress, celebrado en Alicante (España), del 23 al 26 de octubre de 2019, The great capability of insects to adapt to new environments promoted their extraordinary diversification. The key phylogenetic position of mayflies within Paleoptera, as the sister group of the rest of winged insects together with their life history traits make them an essential order to understand insect evolution. Moreover, the mayfly species Cloeon dipterum is a privileged model to study evolutionary innovations as Cloeon males develop, in addition to the compound eyes, an extra pair of dorsal, turban-shaped eyes. To answer these questions, we have successfully established C. dipterum as a model species with a continuous culture in the lab. We have sequenced and assembled a high quality reference genome and we provide the first analyses of the genomic bases underlying the evolution of the turbanate eyes and the origin of insect wings, paving the way for a better understanding of how insects colonized the sky and explored a huge variety of new ecological niches.

Background We present the draft genome sequence of Dysdera silvatica, a nocturnal ground-dwelling spider from a genus that has undergone a remarkable adaptive radiation in the Canary Islands. Results The draft assembly was obtained using short (Illumina) and long (PaciBio and Nanopore) sequencing reads. Our de novo assembly (1.36 Gb), which represents 80% of the genome size estimated by flow cytometry (1.7 Gb), is constituted by a high fraction of interspersed repetitive elements (53.8%). The assembly completeness, using BUSCO and core eukaryotic genes, ranges from 90% to 96%. Functional annotations based on both ab initio and evidence-based information (including D. silvatica RNA sequencing) yielded a total of 48,619 protein-coding sequences, of which 36,398 (74.9%) have the molecular hallmark of known protein domains, or sequence similarity with Swiss-Prot sequences. The D. silvatica assembly is the first representative of the superfamily Dysderoidea, and just the second available genome of Synspermiata, one of the major evolutionary lineages of the “true spiders” (Araneomorphae). Conclusions Dysderoids, which are known for their numerous instances of adaptation to underground environments, include some of the few examples of trophic specialization within spiders and are excellent models for the study of cryptic female choice. This resource will be therefore useful as a starting point to study fundamental evolutionary and functional questions, including the molecular bases of the adaptation to extreme environments and ecological shifts, as well of the origin and evolution of relevant spider traits, such as the venom and silk.

The keystone of planarian taxonomy traditionally has been the anatomy of the copulatory apparatus. However, many planarian species comprise asexual fissiparous populations, with the fissiparous animals not developing a copulatory apparatus, thus precluding their morphological identification. Incorporation of molecular data into planarian systematics has been of great value, not only in the identification of fissiparous individuals but also as an additional source of information for determining species boundaries. Nevertheless, the discrepancy between morphological and molecular data has highlighted the need for extra sources of taxonomic information. Moreover, a recent study has pointed out that fissiparous reproduction may lead to high levels of intraindividual genetic diversity in planarians, which may mislead molecular analyses. In the present study we aim to test a new up-to-date integrative taxonomic procedure for planarians, including intraindividual genetic data and additional sources of taxonomic information, besides morphology and DNA, using Dugesia subtentaculata sensu lato as a model organism, a species with an intricate taxonomic history. First, we used three different methods for molecular species delimitation on single locus datasets, both with and without intraindividual information, for formulating Primary Species Hypotheses (PSHs). Subsequently, Secondary Species Hypotheses (SSHs) were formulated on the basis of three types of information: (1) a coalescent-based species delimitation method applied to multilocus data, (2) morphology of the copulatory apparatus, and (3) karyological metrics. This resulted in the delimitation of four morphologically cryptic species within the nominal species D. subtentaculata. Our results provide evidence that the analysis of intraindividual genetic data is essential for properly developing PSHs in planarians. Our study reveals also that karyological differentiation, rather than morphological differentiation, may play an important role in speciation processes in planarians, thus suggesting that the currently known diversity of the group could be highly underestimated.

Chemoreception is a widespread biological function that is essential for the survival, reproduction, and social communication of animals. Though the molecular mechanisms underlying chemoreception are relatively well known in insects, they are poorly studied in the other major arthropod lineages. Current availability of a number of chelicerate genomes constitutes a great opportunity to better characterize gene families involved in this important function in a lineage that emerged and colonized land independently of insects. At the same time, that offers new opportunities and challenges for the study of this interesting animal branch in many translational research areas. Here, we have performed a comprehensive comparative genomics study that explicitly considers the high fragmentation of available draft genomes and that for the first time included complete genome data that cover most of the chelicerate diversity. Our exhaustive searches exposed thousands of previously uncharacterized chemosensory sequences, most of them encoding members of the gustatory and ionotropic receptor families. The phylogenetic and gene turnover analyses of these sequences indicated that the whole-genome duplication events proposed for this subphylum would not explain the differences in the number of chemoreceptors observed across species. A constant and prolonged gene birth and death process, altered by episodic bursts of gene duplication yielding lineage-specific expansions, has contributed significantly to the extant chemosensory diversity in this group of animals. This study also provides valuable insights into the origin and functional diversification of other relevant chemosensory gene families different from receptors, such as odorant-binding proteins and other related molecules.

Carnivorous plants exploit animals as a nutritional source and have inspired long-standing questions about the origin and evolution of carnivory-related traits. To investigate the molecular bases of carnivory, we sequenced the genome of the heterophyllous pitcher plant Cephalotus follicularis, in which we succeeded in regulating the developmental switch between carnivorous and non-carnivorous leaves. Transcriptome comparison of the two leaf types and gene repertoire analysis identified genetic changes associated with prey attraction, capture, digestion and nutrient absorption. Analysis of digestive fluid proteins from C. follicularis and three other carnivorous plants with independent carnivorous origins revealed repeated co-options of stress-responsive protein lineages coupled with convergent amino acid substitutions to acquire digestive physiology. These results imply constraints on the available routes to evolve plant carnivory.

La posibilidad técnica actual de secuenciar genomas y transcriptomas completos de cualquier especie abre la puerta a cumplir la predicción de Darwin de poder reconstruir de forma rigurosa el árbol de la vida (las relaciones filogenéticas de todos los seres vivos actuales) mediante la filogenómica.

We present version 6 of the DNA Sequence Polymorphism (DnaSP) software, a new version of the popular tool for performing exhaustive population genetic analyses on multiple sequence alignments. This major upgrade incorporates novel functionalities to analyze large data sets, such as those generated by high-throughput sequencing technologies. Among other features, DnaSP 6 implements: 1) modules for reading and analyzing data from genomic partitioning methods, such as RADseq or hybrid enrichment approaches, 2) faster methods scalable for high-throughput sequencing data, and 3) summary statistics for the analysis of multi-locus population genetics data. Furthermore, DnaSP 6 includes novel modules to perform single- and multi-locus coalescent simulations under a wide range of demographic scenarios. The DnaSP 6 program, with extensive documentation, is freely available at http://www.ub.edu/dnasp., This work was supported by grants of the Ministerio de Economía y Competitividad, Spain (BFU2010-15484, CGL2013-45211, AGL2013-41834-R, AGL2016-78709-R, and CGL2016-75255), and by the Comissió Interdepartamental de Recerca I Innovació Tecnològica of Catalonia, Spain (2009SGR-1287 and 2014SGR-1055). J.R. was partially supported by ICREA Academia (Generalitat de Catalunya), and S.G.-R. by a Beatriu de Pinós Postdoctoral Fellowship (AGAUR; 2014 BP-B 00027).

Predicting the phenotypic impact of mutations is a central challenge in population and functional genetics. The analysis of DNA and amino acid sequence variation in an evolutionary context is a robust approach to infer the fitness effects of genetic variants. In this review, we discuss the most popular methods based on this approach, covering both theoretical and practical aspects, and introduce compelling software for predicting the functional effects of mutations, and to highlight functionally relevant nucleotide or amino acid candidate positions. Furthermore, we provide some examples of their application to Drosophila genes affecting significant aspects of the development, physiology and function of the nervous system., This work was supported by grants of the Ministerio de Economía y Competitividad, Spain (CGL2016–75255), and by the Comissió Interdepartamental de Recerca I Innovació Tecnològica of Catalonia, Spain (2014SGR-1055). SG-R was supported by a Beatriu de Pinós Postdoctoral Fellowship (AGAUR; 2014 BP-B 00027), and SHA by the Consejo Nacional de Ciencia y Tecnología, México.

Tras la muerte del dictador Francisco Franco en 1975, España se encuentra sumida en un panorama de inestabilidad entre la continuidad de la dictadura y la presión ejercida por los movimientos sociales en las calles en el periodo conocido como Transición española. La sociedad española había ido cambiando a partir de los resultados del Plan de Estabilización de 1959, pero el régimen no se había adaptado a las nuevas dinámicas sociales, creándose un desequilibrio entre las instituciones y los ciudadanos. La presión ejercida por los distintos movimientos sociales (obrero, estudiantil, vecinal, feminista, etc.) será el detonante que acabará propiciando la caída definitiva de la dictadura y la transición a la democracia entre la muerte del Caudillo en 1975 y la aprobación de la Constitución Española en 1978.

The relative importance of the processes that generate and maintain biodiversity is a major and controversial topic in evolutionary biology with large implications for conservation management. The Atlantic Forest of Brazil, one of the world's richest biodiversity hot spots, is severely damaged by human activities. To formulate an efficient conservation policy, a good understanding of spatial and temporal biodiversity patterns and their underlying evolutionary mechanisms is required. With this aim, we performed a comprehensive phylogeographic study using a low-dispersal organism, the land planarian species Cephaloflexa bergi (Platyhelminthes, Tricladida). Analysing multi-locus DNA sequence variation under the Approximate Bayesian Computation framework, we evaluated two scenarios proposed to explain the diversity of Southern Atlantic Forest (SAF) region. We found that most sampled localities harbour high levels of genetic diversity, with lineages sharing common ancestors that predate the Pleistocene. Remarkably, we detected the molecular hallmark of the isolation-by-distance effect and little evidence of a recent colonization of SAF localities; nevertheless, some populations might result from very recent secondary contacts. We conclude that extant SAF biodiversity originated and has been shaped by complex interactions between ancient geological events and more recent evolutionary processes, whereas Pleistocene climate changes had a minor influence in generating present-day diversity. We also demonstrate that land planarians are an advantageous biological model for making phylogeographic and, particularly, fine-scale evolutionary inferences, and propose appropriate conservation policies.

DNA sequence diversity in genes in the partially sex-linked pseudoautosomal region (PAR) of the sex chromosomes of the plant Silene latifolia is higher than expected from within-species diversity of other genes. This could be the footprint of sexually antagonistic (SA) alleles that are maintained by balancing selection in a PAR gene (or genes) and affect polymorphism in linked genome regions. SA selection is predicted to occur during sex chromosome evolution, but it is important to test whether the unexpectedly high sequence polymorphism could be explained without it, purely by the combined effects of partial linkage with the sex-determining region and the population's demographic history, including possible introgression from Silene dioica. To test this, we applied approximate Bayesian computation-based model choice to autosomal sequence diversity data, to find the most plausible scenario for the recent history of S. latifolia and then to estimate the posterior density of the most relevant parameters. We then used these densities to simulate variation to be expected at PAR genes. We conclude that an excess of variants at high frequencies at PAR genes should arise in S. latifolia populations only for genes with strong associations with fully sex-linked genes, which requires closer linkage with the fully sex-linked region than that estimated for the PAR genes where apparent deviations from neutrality were observed. These results support the need to invoke selection to explain the S. latifolia PAR gene diversity, and encourage further work to test the possibility of balancing selection due to sexual antagonism.

El objetivo de este proyecto consiste en el diseño y fabricación de un magnetómetro de gradiente de campo alterno (AGM) con sensor opto-mecánico, que incluye la electrónica de procesado de la señal. El magnetómetro persigue la medición del ciclo de histéresis magnética en campos magnéticos de hasta 2 teslas, a temperatura ambiente, al aire o en vacío para materiales de dimensiones típicas 5 x 5 x 5mm. El diseño del sensor debe ser compatible con la instrumentación disponible para la generación del gradiente de campo magnético. En la fabricación del dispositivo de medición, basado en la incidencia de un haz láser en un voladizo que sustenta a la muestra, se hará uso de materiales noveles, basados en composites de fibra de carbono fabricados en el campus de Tudela, caracterizados en sus propiedades mecánicas y adecuados a la aplicación opto-mecánica que se requiere. La fabricación se realizará mediante el uso de nuevas tecnologías de fabricación de materiales de las que se dispone en el campus de Tudela. The objective of this project is based on designing and manufacturing an Alternanting field Gradient Magnetometer (AGM) with opto-mechanical sensor which includes electronic signal processing. The device is to record magnetic hysteresis loops in fields up to 2 tesla at room temperature, in air or in vacuum, for materials dimensions about 5 x 5 x 5mm. The sensor design should be compatible with the available instrumentation for generating the magnetic field gradient. It will make use of novel materials based on composites of carbon fiber manufactured on the campus of Tudela in the manufacture of the measuring device, based on the incidence of a laser beam on a cantilever which supports the sample, characterized in properties appropriate mechanical and opto-mechanical application required. New manufacturing technologies of materials have been used, available at the campus of Tudela. Graduado o Graduada en Ingeniería en Diseño Mecánico por la Universidad Pública de Navarra Diseinu Mekanikoko Ingeniaritzan Graduatua Nafarroako Unibertsitate Publikoan

[Motivation]: The development of molecular markers is one of the most important challenges in phylogenetic and genome wide population genetics studies, especially in studies with non-model organisms. A highly promising approach for obtaining suitable markers is the utilization of genomic partitioning strategies for the simultaneous discovery and genotyping of a large number of markers. Unfortunately, not all markers obtained from these strategies provide enough information for solving multiple evolutionary questions at a reasonable taxonomic resolution., [Results]: We have developed Development Of Molecular markers In Non-model Organisms (DOMINO), a bioinformatics tool for informative marker development from both next generation sequencing (NGS) data and pre-computed sequence alignments. The application implements popular NGS tools with new utilities in a highly versatile pipeline specifically designed to discover or select personalized markers at different levels of taxonomic resolution. These markers can be directly used to study the taxa surveyed for their design, utilized for further downstream PCR amplification in a broader set taxonomic scope, or exploited as suitable templates to bait design for target DNA enrichment techniques. We conducted an exhaustive evaluation of the performance of DOMINO via computer simulations and illustrate its utility to find informative markers in an empirical dataset., [Availability and Implementation]: DOMINO is freely available from www.ub.edu/softevol/domino., [Contact]: elsanchez@ub.edu or jrozas@ub.edu, [Supplementary information]: Supplementary data are available at Bioinformatics online., This work was supported by the Ministerio de Educación y Ciencia of Spain (No. BFU2010-15484 and No. CGL2013-45211 to J.R. and No. CGL2012-36863 to M.A.A.).

11 páginas, 5 figuras, 5 tablas., Chromosomal inversion polymorphism play a major role in the evolutionary dynamics of populations and species because of their effects on the patterns of genetic variability in the genomic regions within inversions. Though there is compelling evidence for the adaptive character of chromosomal polymorphisms, the mechanisms responsible for their maintenance in natural populations is not fully understood. For this type of analysis, Drosophila subobscura is a good model species as it has a rich and extensively studied chromosomal inversion polymorphism system. Here, we examine the patterns of DNA variation in two natural populations segregating for chromosomal arrangements that differentially affect the surveyed genomic region; in particular, we analyse both nucleotide substitutions and insertion/deletion variations in the genomic region encompassing the odorant-binding protein genes Obp83a and Obp83b (Obp83 region). We show that the two main gene arrangements are genetically differentiated, but are consistent with a monophyletic origin of inversions. Nevertheless, these arrangements interchange some genetic information, likely by gene conversion. We also find that the frequency spectrum-based tests indicate that the pattern of nucleotide variation is not at equilibrium; this feature probably reflects the rapid increase in the frequency of the new gene arrangement promoted by positive selection (that is an adaptive change). Furthermore, a comparative analysis of polymorphism and divergence patterns reveals a relaxation of the functional constraints at the Obp83b gene, which might be associated with particular ecological or demographic features of the Canary island endemic species D. guanche., This work was funded by grants BFU2004-02253 and BFU2007-62927 from the Ministerio de Educación y Ciencia (Spain) and 2005SRG- 00166 from Comissió Inter-departamental de Recerca I Innovació Tecnològica (Spain).

Chemoreception is a crucial biological process that is essential for the survival of animals. In insects, olfaction allows the organism to recognise volatile cues that allow the detection of food, predators and mates, whereas the sense of taste commonly allows the discrimination of soluble stimulants that elicit feeding behaviours and can also initiate innate sexual and reproductive responses. The most important proteins involved in the recognition of chemical cues comprise moderately sized multigene families. These families include odorant-binding proteins (OBPs) and chemosensory proteins (CSPs), which are involved in peripheral olfactory processing, and the chemoreceptor superfamily formed by the olfactory receptor (OR) and gustatory receptor (GR) families. Here, we review some recent evolutionary genomic studies of chemosensory gene families using the data from fully sequenced insect genomes, especially from the 12 newly available Drosophila genomes. Overall, the results clearly support the birth-and-death model as the major mechanism of evolution in these gene families. Namely, new members arise by tandem gene duplication, progressively diverge in sequence and function, and can eventually be lost from the genome by a deletion or pseudogenisation event. Adaptive changes fostered by environmental shifts are also observed in the evolution of chemosensory families in insects and likely involve reproductive, ecological or behavioural traits. Consequently, the current size of these gene families is mainly a result of random gene gain and loss events. This dynamic process may represent a major source of genetic variation, providing opportunities for FUTURE specific adaptations.

The recent publication of a centipede (Strigamia maritima) genome has revealed that most members of the chemosensory gene families of ionotropic (IR) and gustatory (GR) receptors do not have identifiable orthologs in insect species. In other words, the diversity of these chemoreceptors in centipedes appears to have evolved after its split from other arthropod lineages. Here we investigate the role of adaptive evolution in S. maritima chemoreceptor diversification using an approach that allows us to discuss functional aspects of such diversification. We applied codon substitution models in a phylogenetic framework to obtain the distribution of selective constraints across the different domains in the IR and GR proteins, and to assess the impact of positive selection in the evolution of these chemoreceptors. We found low selective constraints in most IR and GR duplicates and significant evidence for the presence of positively selected amino acids in two of the four IR, and in six of the GR recent specific expansions. Mapping the sites with high posterior probability of positive selection in protein structure revealed a remarkable uneven distribution of fast-evolving sites across protein domains. Most of these sites are located in extracellular fragments of these receptors, which likely participate in ligand recognition. We hypothesize that adaptive evolution in ligand-binding domains was a major force driving the functional diversification of centipede chemoreceptors.

Mediterranean mountain ranges harbour highly endemic biota in islandlike habitats. Their topographic diversity offered the opportunity for mountain species to persist in refugial areas during episodes of major climatic change. We investigate the role of Quaternary climatic oscillations in shaping the demographic history and distribution ranges in the spider Harpactocrates ravastellus, endemic to the Pyrenees. Gene trees and multispecies coalescent analyses on mitochondrial and nuclear DNA sequences unveiled two distinct lineages with a hybrid zone around the northwestern area of the Catalan Pyrenees. The lineages were further supported by morphological differences. Climatic niche-based species distribution models (SDMs) identified two lowland refugia at the western and eastern extremes of the mountain range, which would suggest secondary contact following postglacial expansion of populations from both refugia. Neutrality test and approximate Bayesian computation (ABC) analyses indicated that several local populations underwent severe bottlenecks followed by population expansions, which in combination with the deep population differentiation provided evidence for population survival during glacial periods in microrefugia across the mountain range, in addition to the main Atlantic and Mediterranean (western and eastern) refugia. This study sheds light on the complexities of Quaternary climatic oscillations in building up genetic diversity and local endemicity in the southern Europe mountain ranges.

We have conducted molecular population genetics analyses to understand the relationships among the transposable elements (TEs) in Drosophila melanogaster, in combination with sequence comparisons of TEs from two related species, D. simulans and D. yakuba. We observed much lower than expected genetic differences among elements, clear evidence for departure from expectations for equilibrium copy numbers and little divergence between species. This suggests that a large proportion of TEs in D. melanogaster had a recent origin as a result of interspecies movement.

Gene turnover rates and the evolution of gene family sizes are important aspects of genome evolution. Here, we use curated sequence data of the major chemosensory gene families from Drosophila—the gustatory receptor, odorant receptor, ionotropic receptor, and odorant-binding protein families—to conduct a comparative analysis among families, exploring different methods to estimate gene birth and death rates, including an ad hoc simulation study. Remarkably, we found that the state-of-the-art methods may produce very different rate estimates, which may lead to disparate conclusions regarding the evolution of chemosensory gene family sizes in Drosophila. Among biological factors, we found that a peculiarity of D. sechellia’s gene turnover rates was a major source of bias in global estimates, whereas gene conversion had negligible effects for the families analyzed herein. Turnover rates vary considerably among families, subfamilies, and ortholog groups although all analyzed families were quite dynamic in terms of gene turnover. Computer simulations showed that the methods that use ortholog group information appear to be the most accurate for the Drosophila chemosensory families. Most importantly, these results reveal the potential of rate heterogeneity among lineages to severely bias some turnover rate estimation methods and the need of further evaluating the performance of these methods in a more diverse sampling of gene families and phylogenetic contexts. Using branch-specific codon substitution models, we find further evidence of positive selection in recently duplicated genes, which attests to a nonneutral aspect of the gene birth-and-death process.

Gene turnover rates and the evolution of gene family sizes are important aspects of genome evolution. Here, we use curated sequence data of the major chemosensory gene families from Drosophila-the gustatory receptor, odorant receptor, ionotropic receptor, and odorant-binding protein families-to conduct a comparative analysis among families, exploring different methods to estimate gene birth and death rates, including an ad hoc simulation study. Remarkably, we found that the state-of-the-art methods may produce very different rate estimates, which may lead to disparate conclusions regarding the evolution of chemosensory gene family sizes in Drosophila. Among biological factors, we found that a peculiarity of D. sechellia's gene turnover rates was a major source of bias in global estimates, whereas gene conversion had negligible effects for the families analyzed herein. Turnover rates vary considerably among families, subfamilies, and ortholog groups although all analyzed families were quite dynamic in terms of gene turnover. Computer simulations showed that the methods that use ortholog group information appear to be the most accurate for the Drosophila chemosensory families. Most importantly, these results reveal the potential of rate heterogeneity among lineages to severely bias some turnover rate estimation methods and the need of further evaluating the performance of these methods in a more diverse sampling of gene families and phylogenetic contexts. Using branch-specific codon substitution models, we find further evidence of positive selection in recently duplicated genes, which attests to a nonneutral aspect of the gene birth-and-death process.

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This paper presents a new reaction mechanism for the effect of the pH on the suicide inactivation of the diphenolase activity of tyrosinase. The applicability of the mechanism is supported by the experimental characterization of the kinetic behaviour of the frog epidermis enzyme acting on catechol, l -dopa and α-methyldopa at several pH values. Two enzyme forms ‘met-’ and ‘oxy-’ tyrosinase, but no their corresponding enzyme-diphenol complexes, present one ionizable group with very similar value of K a which has been determined. The highest values of catalytic and inactivation efficiencies correspond to α-methyldopa and catechol, respectively. These kinetic studies have been carried out by using the transient phase approach previously developed, with negligible substrate consumption during the assay time. That illustrate the usefulness of the method for multisubstrate enzyme reactions.

An important kinetic analysis of unstable enzyme systems was carried out by Duggleby (Duggleby, R.G. (1986) J. Theor. Biol. 123, 67-80). This author states that his results are of general validity in the sense that the instability rate constants may have any value. Later, Wang & Tsou (Wang and Tsou (1990) J. Theor. Biol. 142, 531-549) rediscovered Duggleby's results when they analyzed a scheme in which the inactivations were due to a non-complexing irreversible inhibitor, pointing out the need to assume an initial steady-state in the catalytic route of the reaction. In the present contribution we show that there are values of the instability rate constants for which the equations of Duggleby are not applicable. We propose, for these cases, an alternative equation, which relates the final substrate concentration with the initial ones of both the substrate and the enzyme. Based on this, an experimental design for the evaluation of kinetic parameters is suggested. The present work concerns enzyme reactions evolving according to a Michaelis-Menten mechanism, in which the free enzyme and/or the enzyme-substrate complex are unstable.

Chemoreception is the most important sense for the survival and reproduction of most animal species. In insects, the principal proteins involved in the recognition of chemical cues comprise moderately sized, multigene families. These families include (i) odorant-binding (OBPs) and chemosensory (CSPs) proteins, which are involved in peripheral olfactory processing; (ii) the chemoreceptor super-family, formed by the olfactory (OR) and gustatory (GR) receptors; and (iii) the ionotropic receptors (IR), a variant class of ionotropic glutamate receptors (iGluR). Recent comparative genomic analyses of fully sequenced arthropod genomes support the birth-and-death model as the major evolutionary mechanism in determining the chemosensory repertoire size, and provide evidence of adaptive changes fostered by ecological shifts that might influence the current size of chemosensory families. These studies also advocate for the origin of olfactory gene families with the evolution of terrestriality in insects. Key Concepts: The chemosensory system mediates the detection of food, predators and mates, eliciting feeding behaviours and innate sexual and reproductive responses. In arthropods, the most important proteins involved in the recognition of chemical cues comprise moderately sized multigene families. The chemosensory system of arthropods relies on transmembrane receptors (OR, GR and IR gene families) and small globular proteins (OBP and CSP families). The number of chemosensory genes is similar across the Drosophila genus, with little variation in the gene number among species. New OBP and CSP genes appear by gene duplication in extant chromosomal clusters, and diverge independently from each other. An unexpectedly high number of gene gains and losses occurred in the evolution of chemosensory families during the 40–60 Myr of divergence of the Drosophila genus. The chemosensory families in insects evolve under a birth-and-death process, with lineage-specific family size expansions and contractions at large time scale. The selective constraints on chemosensory genes have varied over the evolution of the Drosophila genus, with some cases of positive selection. Random genomic drift, assisted by eventual adaptation processes, is the principal determinant of the chemosensory family size of arthropods. Keywords: chemosensory system; multigene families; odorant-binding proteins; odorant receptors; gustatory receptors; ionotropic receptors; family size; birth-and-death model; positive selection

13 pages, 4 figures, 1 table, 5 additional files., [Background] Drosophila Frequenin (Frq), the homolog of the mammalian Neuronal Calcium Sensor-1 (NCS-1), is a high affinity calcium-binding protein with ubiquitous expression in the nervous system. This protein has an important role in the regulation of neurotransmitter release per synapse, axonal growth and bouton formation. In D. melanogaster, Frequenin is encoded by two genes (frq1 and frq2), a very unexpected feature in the Frq/NCS-1 subfamily. These genes are located in tandem in the same genomic region, and their products are 95% identical in their amino acid sequence, clearly indicating their recent origin by gene duplication. Here, we have investigated the factors involved in this unusual feature by examining the molecular evolution of the two frq genes in Drosophila and the evolutionary dynamics of NCS family in a large set of bilaterian species., [Results] Surprisingly, we have found no amino acid replacements fixed across the twelve Drosophila species surveyed. In contrast, synonymous substitutions have been prevalent in the evolution of the coding region of frq1 and frq2, indicating the presence of strong functional constraints following gene duplication. Despite that, we have detected that significant evolutionary rate acceleration had occurred in Frq1 in early times from the duplication, in which positive selection (likely promoting functional diversification) had probably an important role. The analysis of sequence conservation and DNA topology at the non-coding regions of both genes has allowed the identification of DNA regions candidates to be cis-regulatory elements. The results reveal a possible mechanism of regulatory diversification between frq1 and frq2., [Conclusions] The presence of two Frequenins in Drosophila and the rapid accumulation of amino acid substitutions after gene duplication are very unusual features in the evolution of the Frq/NCS-1 subfamily. Here we show that the action of positive selection in concordance with some extent of regulatory diversification might explain these findings. Selected amino acid substitutions in Frq1 likely contributed to the functional divergence between the two duplicates, which, in turn, should have diverged in their regulation by Ecdysone-induced early genes., Research was funded by grants BFU 2006-10180 and the European Research Network of Excellence MYORES ref.: CE-511978.

Nucleotide variation at the genomic region encompassing the odorant-binding protein genes OS-E and OS-F (OS region) was surveyed in two populations of Drosophila simulans, one from Europe and the other from Africa. We found that the European population shows an atypical and large haplotype structure, which extends throughout the ∼5-kb surveyed genomic region. This structure is depicted by two major haplotype groups segregating at intermediate frequency in the sample, one haplogroup with nearly no variation, and the other at levels more typical for this species. This pattern of variation was incompatible with neutral predictions for a population at a stationary equilibrium. Nevertheless, neutrality tests contrasting polymorphism and divergence data fail to detect any departure from the standard neutral model in this species, whereas they confirm the non-neutral behavior previously observed at the OS-E gene in D. melanogaster. Although positive Darwinian selection may have been responsible for the observed unusual nucleotide variation structure, coalescent simulation results do not allow rejecting the hypothesis that the pattern was generated by a recent bottleneck in the history of European populations of D. simulans.

Langerhans cell histiocytosis (LCH) is a disease of unknown etiology, characterized by proliferation of pathological Langerhans cells within different organs. It mainly affects children, but adult cases also occur, with an incidence rate of one to two per million. The head and neck are affected in almost 90% of cases. Diagnosis is made by means of histopathological analysis, and imaging studies are necessary in order to determine extent of the disease. There are no controlled trials proposing an optimal treatment protocol for LCH. Prognosis in adults is generally good due to the slow evolution of the disease and its favourable response to treatment. In our report, we present three cases of LCH in patients aged 16, 24, and 28 years respectively, with primary manifestation in the maxillofacial area. A literature review was also conducted.

Se ha estudiado la evolución molecular de los genes del sistema olfatorio OS-E y OS-F en especies del subgénero Sophophora de Drosophila, concretamente en especies de los grupos melanogaster y obscura. Los genes OS (olfactory-specific) codifican para proteínas de la familia de las OBPs (Odorant Binding Proteins), proteínas de unión a odorantes (i/o feromonas), que debido a su función en el sistema de reconocimiento del medio externo podrían, a priori, haber sufrido cambios de tipo adaptativo. El objetivo ha sido estudiar el posible impacto de la selección natural positiva en la evolución de estos genes en Drosophila. Los resultados se han descrito en cuatro artículos:En el primer artículo se describe el análisis de la variabilidad nucleotídica en una región de unas 7kb que incluye los genes OS-E y OS-F en cuatro especies del subgrupo melanogaster de Drosophila, Drososphila melanogaster, D. simulans, D. mauritiana y D. erecta, así como en una población natural de Drosophila melanogaster. Los resultados indican que los genes OS-E y OS-F están presentes en las cuatro especies investigadas y mantienen su estructura génica. Las estimas de polimorfismo y divergencia nucleotídica soportan la hipótesis de que ambos genes son funcionales, aunque presentan diferencias en su tasa evolutiva y en su constricción funcional. Algunas de las observaciones no son compatibles con el modelo neutro.En el segundo artículo se describe la caracterización, secuenciación y análisis de la variabilidad nucleotídica de la región genómica que incluye los genes del sistema olfativo OS-E y OS-F en una población europea y en otra africana de la especie D. simulans. Las estimas de variación silenciosa y de la tasa de recombinación son mayores en D. simulans. que en D. melanogaster. Además, la población europea de D. simulans. presenta una estructura haplotípica inusual, donde la mitad de las secuencias son prácticamente idénticas (difiriendo en tan sólo una sustitución nucleotídica). Esta estructuración es incompatible con las predicciones de la teoría neutralista para poblaciones en equilibrio estacionario. En el tercer artículo se investiga la variación nucleotídica de la región que incluye los genes OS-E y OS-F en dos ordenaciones cromosómicas (O[3+4] y O3+4+23), presentes en dos poblaciones naturales de Drosophila subobscura. El análisis de los niveles y patrón del polimorfismo de DNA son consistentes con un origen monofilético de la inversiones. A pesar de que las dos ordenaciones cromosómicas están fuertemente diferenciadas, existen evidencias de que ha habido flujo genético entre las mismas, probablemente provocado por eventos de conversión génica. Los tests basados en la distribución de las frecuencias de las mutaciones indican que las ordenaciones cromosómicas no se encuentran en equilibrio. Bajo una hipótesis de expansión, se ha estimado que la inversión O23 se originó hace unos 0.25 millones de años.En el último artículo se analiza la evolución molecular de las secuencias codificadoras de los genes OS-E y OS-F en 14 especies del subgénero Sophophora de Drosophila. El trabajo se ha realizado combinando análisis por máxima verosimilitud de la variabilidad sinónima y no sinónima (mediante el uso de modelos evolutivos de codones), con la información de la putativa estructura tridimensional de la proteína. Se ha estimado que la duplicación que originó los dos genes pudo ocurrir hace unos 43-94 millones de años. Los resultados indican que a pesar de que ambos genes presentan una gran y similar constricción funcional, el gen OS-E presenta una tasa evolutiva global significativamente más alta. Los resultados de este capítulo, así como del trabajo en general, sugieren que la selección natural positiva actuó sobre posiciones concretas de la zona codificadora de estos dos genes, y pudo tener un papel importante en la preservación de los dos genes duplicados en el genoma., We have studied the molecular evolution (at intraspecific and interspecific levels) of two members of the OBP (Odorant Binding Protein) gene family (the OS-E and OS-F genes) in different Drosophila species. These genes likely originated by an old gene duplication event, still maintaining a high conservation at the gene structure, amino acid, and nucleotide levels. In this study, we detected significant differences in the evolutionary rate and functional constraint between the two genes. The results are unlikely for a neutral evolving region. We also found that levels of silent variation and recombination rates are significantly higher in "Drosophila simulans" than in "D. Melanogaster". Additionally, we detected that the European population of "D. Simulans" is highly structured, with a very unusual haplotype configuration that deviates significantly from the neutral expectations.In "D. Subobscura" this region maps on the O chromosome. In particular, the OS-region is located close to one of the breakpoints of the inversion O23. The analysis of the patterns of nucleotide variation at the OS-E and OS-F genes in "D. Subobscura" in two different chromosomal inversions showed that nucleotide variation is not at the steady-state equilibrium, but reflects the expansion process caused by the increase in frequency of the inversion. Finally, we analyzed nucleotide variation at the OS-E and OS-F genes in a number of Drosophila species to understand the evolutionary forces underlying their molecular evolution in this genus. We applied random and fixed-effects models, integrating information of DNA polymorphism, amino acid and nucleotide-based divergence, and 3D structure data to determine the selective constraint levels, and the putative role of positive selection in the evolutionary history of these genes, and especially in the maintenance of these duplicated gene copies. The results of these analyses allows concluding that positive selection is likely involved in the evolution of these genes in Drosophila.

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., Author Summary Arthropods are the most abundant animals on earth. Among them, insects clearly dominate on land, whereas crustaceans hold the title for the most diverse invertebrates in the oceans. Much is known about the biology of these groups, not least because of genomic studies of the fruit fly Drosophila, the water flea Daphnia, and other species used in research. Here we report the first genome sequence from a species belonging to a lineage that has previously received very little attention—the myriapods. Myriapods were among the first arthropods to invade the land over 400 million years ago, and survive today as the herbivorous millipedes and venomous centipedes, one of which—Strigamia maritima—we have sequenced here. We find that the genome of this centipede retains more characteristics of the presumed arthropod ancestor than other sequenced insect genomes. The genome provides access to many aspects of myriapod biology that have not been studied before, suggesting, for example, that they have diversified receptors for smell that are quite different from those used by insects. In addition, it shows specific consequences of the largely subterranean life of this particular species, which seems to have lost the genes for all known light-sensing molecules, even though it still avoids light.

El término pseudotumor inflamatorio hace referencia a un proceso reactivo y pseudoneoplásico que puede aparecer en diferentes localizaciones del cuerpo humano. El pulmón es el órgano que se afecta con mayor frecuencia. Su etiología sigue siendo desconocida. Afecta a individuos de ambos sexos y con un amplio rango de edad. Su diagnóstico sigue siendo dificultoso y se basa en el examen histológico de las lesiones que están formadas por cuatro elementos fundamentalmente: histiocitos, miofibroblastos, células plasmáticas y linfocitos. A la hora de elegir el tratamiento no hay unanimidad y se incluye desde tratamiento quirúrgico de las lesiones hasta radioterapia, quimioterapia y esteroides. El propósito de este artículo es describir un caso de pseudotumor inflamatorio localizado en glándula parótida, su dificultad para llegar al diagnóstico correcto y realizar así el tratamiento más adecuado.

Additional file 1: Figures. S1-S22, Table S1-S20, Methods and Results. Figure S1. Mitochondrial genome view of grape phylloxera. Figure S2. Proportion of transposable elements (TE) in the genome. Figure S3. GO terms of phylloxera-specific genes. Figure S4. Enriched GO terms in the phylloxera genome with and without TEs. Figure S5. Gene gain/loss at different nodes or branches. Figure S6. Species phylogenetic tree based on insect genomes and the transcriptomes of Planoccoccus citri and Adelges tsugae. Figure S7. Diagram of the gap-filling and annotation process. Figure S8. Urea cycle in D. vitifoliae and A. pisum. Figure S9. IMD immune pathway in D. vitifoliae.Figure S10. Phylogenetic tree of RR-1 cuticular proteins.Figure S11. Phylogenetic tree of RR-2 cuticular proteins.Figure S12. Comparison of miRNAs in D. vitifoliae and other insect genomes. Figure S13. Phylogenetic tree of aquaporin protein sequences. Figure S14. Comparison of the phylloxera PER protein with other insects. Figure S15. Amino acid alignment of PTTH amino acid sequences. Figure S16. Phylogeny of hemipteran ORs. Figure S17. Phylogeny of hemipteran GRs. Figure S18. Phylogenetic analysis of OBPs. Figure S19. Phylogenetic analysis of CSPs. Figure S20. Phylogenetic analysis of NPC2s. Figure S21. Distribution of cluster sizes of putative effectors. Figure S22. Physical distribution of the three largest clusters of effectors. Table S1. Genes of bacterial and fungal origin. Table S2. Statistics on TEs. Table S3. GO enrichment of genes duplicated at different ancestral nodes. Table S4. Metabolic gaps in the D. vitifoliae reaction network. Table S5. Functional annotation of metabolic genes. Table S6. Genes of the TOLL pathway. Table S7. Genes of the IMD pathway. Table S8. Statistics on cuticular proteins. Table S9. Developmental genes in D. vitifoliae and A. pisum. Table S10. miRNAs. Table S11. Clock-related genes. Table S12. List of ORs and GRs. Table S13. Number of OBPs, CSPs and NPC2s. Table S14. List of Cytochromes P450. Table S15. List of genes involved in detoxification. Table S16. Effector genes with predicted domains and their corresponding functions. Table S17. Statistics on sequence reads and SRA accessions used for the reference genome. Table S18. List of species used to study gene expansions. Table S19. Sampling sites and SRA used for population genomics analyses. Table S20. Prior distribution of parameters used for ABC modeling of invasion routes.

While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 BRCA1 and 8,211 BRCA2 mutation carriers and subsequently analyzed using a retrospective likelihood approach. The association of HMMR rs299290 with breast cancer risk in BRCA1 mutation carriers was confirmed: per-allele hazard ratio (HR) = 1.10, 95% confidence interval (CI) 1.04 – 1.15, p = 1.9 x 10−4 (false discovery rate (FDR)-adjusted p = 0.043). Variation in CSTF1, located next to AURKA, was also found to be associated with breast cancer risk in BRCA2 mutation carriers: rs2426618 per-allele HR = 1.10, 95% CI 1.03 – 1.16, p = 0.005 (FDR-adjusted p = 0.045). Assessment of pairwise interactions provided suggestions (FDR-adjusted pinteraction values > 0.05) for deviations from the multiplicative model for rs299290 and CSTF1 rs6064391, and rs299290 and TUBG1 rs11649877 in both BRCA1 and BRCA2 mutation carriers. Following these suggestions, the expression of HMMR and AURKA or TUBG1 in sporadic breast tumors was found to potentially interact, influencing patients’ survival. Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers.