A5078578583- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Reproductive biology and impacts on aquatic species
- Animal Genetics and Reproduction
- Chromosomal and Genetic Variations
- Genetic diversity and population structure
- Fish Ecology and Management Studies
- Genetic and phenotypic traits in livestock
- Genomics and Phylogenetic Studies
- Fish Biology and Ecology Studies
- Wildlife Ecology and Conservation
- Hormonal Regulation and Hypertension
- Subterranean biodiversity and taxonomy
- Aquaculture Nutrition and Growth
- Nutrition, Genetics, and Disease
- Sperm and Testicular Function
- Sexual Differentiation and Disorders
- Turtle Biology and Conservation
- Animal Behavior and Reproduction
- Fish biology, ecology, and behavior
- Cancer, Hypoxia, and Metabolism
- Marine Ecology and Invasive Species
- Parasite Biology and Host Interactions
- Adrenal and Paraganglionic Tumors
- Kruppel-like factors research
- Plant Surface Properties and Treatments
Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement
2019-2024
Fish Physiology and Genomics Institute
2015-2024
Genopole (France)
2013
Institut National de la Recherche Agronomique
2011-2012
Hôpital Européen
2010-2011
Assistance Publique – Hôpitaux de Paris
2010-2011
Institut de Génomique Fonctionnelle
2011
Institut thématique Génétique, génomique et bioinformatique
2011
Biogen (Belgium)
2011
Hôpital Européen Georges-Pompidou
2010-2011
Mitochondrial succinate-coenzyme Q reductase (complex II) consists of four subunits, SDHA, SDHB, SDHC and SDHD. Heterozygous germline mutations in SDHB , SDHD SDHAF2 [encoding for succinate dehydrogenase (SDH) complex assembly factor 2] cause hereditary paragangliomas pheochromocytomas. Surprisingly, no genetic link between SDHA paraganglioma/pheochromocytoma syndrome has ever been established. We identified a heterozygous mutation, p.Arg589Trp, woman suffering from catecholamine-secreting...
Abstract All salmonid species investigated to date have been characterized with a male heterogametic sex‐determination system. However, as these do not share any Y‐chromosome conserved synteny, there remains debate on whether they common master sex‐determining gene. In this study, we the extent of conservation and evolution rainbow trout ( O ncorhynchus mykiss ) gene, sdY sexually dimorphic ), in 15 different salmonids. We found that sequence is highly all salmonids male‐specific gene...
With more than 30,000 species, ray-finned fish represent approximately half of vertebrates. The evolution was impacted by several whole genome duplication (WGD) events including a teleost-specific WGD event (TGD) that occurred at the root teleost lineage about 350 million years ago (Mya) and recent in salmonids, carps, suckers others. In plants animals, are associated with adaptive radiations evolutionary innovations. WGD-spurred innovation may be especially relevant case fish, which...
Pheochromocytomas and paragangliomas are neuroendocrine tumors that occur in the context of inherited cancer syndromes ∼30% cases linked to germline mutations VHL, RET, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2 TMEM127 genes. Although genome-wide expression studies have revealed some mechanisms likely be involved pheochromocytoma/paraganglioma tumorigenesis, complete molecular distinction all subtypes hereditary has not been solved genetic events generation sporadic unknown. With these purposes...
Accurate species phylogenies are a prerequisite for all evolutionary research. Teleosts the largest and most diversified group of extant vertebrates, but relationships among their three oldest lineages remain unresolved. On basis seven high-quality new genome assemblies in Elopomorpha (tarpons, eels), we revisited topology deepest branches teleost phylogeny using independent gene sequence chromosomal rearrangement phylogenomic approaches. These analyses converged to single scenario that...
Teleost fishes, thanks to their rapid evolution of sex determination mechanisms, provide remarkable opportunities study the formation chromosomes and mechanisms driving birth new master determining (MSD) genes. However, evolutionary interplay between MSD genes they harbor is rather unexplored. We characterized a male-specific duplicate anti-Müllerian hormone (amh) as gene in Northern Pike (Esox lucius), using genomic expression evidence well by loss-of-function gain-of-function experiments....
The study of sex determination and chromosome organization in nonmodel species has long been technically challenging, but new sequencing methodologies now enable precise high-throughput identification sex-specific genomic sequences. In particular, restriction site-associated DNA (RAD-Seq) is being extensively applied to explore systems many plant animal species. However, software specifically designed search for visualize sex-biased markers using RAD-Seq data lacking. Here, we present...
Evolutionary novelties require rewiring of transcriptional networks and/or the evolution new gene functions. Sex determination (SD), one most plastic evolutionary processes, requires such novelties. Studies on vertebrate SD revealed that master genes are generally recruited from involved in downstream regulatory genetic network. Only a single exception to this rule is currently known vertebrates: intriguing case salmonid (sdY), which arose duplication an immune-related gene. This immediately...
Abstract Whole‐genome duplications (WGDs) are important evolutionary events. Our understanding of underlying mechanisms, including the evolution duplicated genes after WGD, however, remains incomplete. Teleost fish experienced a common WGD (teleost‐specific genome duplication, or TGD) followed by dramatic adaptive radiation leading to more than half all vertebrate species. The analysis gene expression patterns following TGD at level has been limited lack suitable genomic resources. recent...
The understanding of the evolution variable sex determination mechanisms across taxa requires comparative studies among closely related species. Following fate a known master sex-determining gene, we traced in an entire teleost order (Esociformes). We discovered that northern pike ( Esox lucius ) gene originated from 65 to 90 million-year-old duplication event and it remained linked on undifferentiated chromosomes for at least 56 million years multiple identified several independent species-...
The evolution of sex determination (SD) in teleosts is amazingly dynamic, as reflected by the variety different master sex-determining genes identified. Pangasiids are economically important catfishes South Asian countries, but little known about their SD system. Here, we generated novel genomic resources for 12 and characterized Based on a Pangasianodon hypophthalmus chromosome-scale genome assembly, identified an anti-Müllerian hormone receptor type Ⅱ gene (amhr2) duplication, which was...
The Percidae family comprises many fish species of major importance for aquaculture and fisheries. Based on three new chromosome-scale assemblies in Perca fluviatilis, schrenkii, Sander vitreus along with additional percid reference genomes, we provide an evolutionary comparative genomic analysis their sex-determination systems.
Abstract Background Goldfish is an important model for various areas of research, including neural development and behavior a species significant importance in aquaculture, especially as ornamental species. It has male heterogametic (XX/XY) sex determination system that relies on both genetic environmental factors, with high temperatures being able to produce female-to-male reversal. Little, however, currently known the molecular basis this cyprinid model. Here we used sequencing approaches...
Salmonids are generally considered to have a robust genetic sex determination system with simple male heterogamety (XX/XY). However, spontaneous masculinization of XX females has been found in rainbow trout population gynogenetic doubled haploid individuals. The analysis this phenotype transmission supported the hypothesis involvement recessive mutation (termed mal). As temperature effect on differentiation reported some salmonid species, study we investigated detail potential implication...
Type 1 pseudohypoaldosteronism (PHA1), a primary form of mineralocorticoid resistance, is due to inactivating mutations the NR3C2 gene, coding for receptor (MR).The objective study was assess whether different have distinct effects on pattern MR-dependent transcriptional regulation aldosterone-regulated genes.Four MR affecting residues in ligand binding domain, identified families with PHA1, were tested. proteins generated by site-directed mutagenesis analyzed their aldosterone and...
In mammals, follistatin (FST) plays an important role in early ovarian differentiation, acting downstream of the Wnt pathway. teleost fish, <i>fst</i> is implicated folliculogenesis and oocyte maturation, specific expression during differentiation has been described rainbow trout, <i>Oncorhynchus mykiss. </i>By situ hybridization, we demonstrated that trout gonadal shares a similar pattern with <i>cyp19a1a</i>, gene encoding aromatase, key steroidogenic...
Abstract Teleost fishes, thanks to their rapid evolution of sex determination mechanisms, provide remarkable opportunities study the formation chromosomes and mechanisms driving birth new master determining (MSD) genes. However, evolutionary interplay between MSD genes they harbor is rather unexplored. We characterized a male-specific duplicate anti-Müllerian hormone ( amh) as gene in Northern Pike Esox lucius ), using genomic expression evidences well by loss-of-function gain-of-function...
The genetic regulatory network governing vertebrate gonadal differentiation appears less conserved than previously thought. Here, we investigated the development of <i>Astyanax mexicanus</i> Pachón cavefish by looking at primordial germ cells (PGCs) migration and proliferation, gonad histology, gene expression patterns. We showed that PGCs are first detected 80% epiboly stage then reach primordium 1 day post-fertilization (dpf). However, in contrast to generally described absence...
Sex determination is known to be male heterogametic in the rainbow trout, <i>Oncorhynchus mykiss</i>; however, scattered observations that deviate from this rather strict genetic control have been reported. Here, we provide a detailed morphological and histological characterization of gonadal differentiation development (from 43 days postfertilization 11 months age) an all-female (XX) population with genetically governed masculinization phenotype. In comparison males females,...
Abstract Whole genome duplications (WGD) are important evolutionary events. Our understanding of underlying mechanisms, including the evolution duplicated genes after WGD, however remains incomplete. Teleost fish experienced a common WGD (teleost-specific duplication, or TGD) followed by dramatic adaptive radiation leading to more than half all vertebrate species. The analysis gene expression patterns following TGD at level has been limited lack suitable genomic resources. recent concomitant...
ABSTRACT The study of sex determination and chromosome organisation in non-model species has long been technically challenging, but new sequencing methodologies are now enabling precise high-throughput identification sex-specific genomic sequences. In particular, Restriction Site-Associated DNA Sequencing (RAD-Seq) is being extensively applied to explore systems many plant animal species. However, software designed specifically search for sex-biased markers using RAD-Seq data lacking. Here,...
ABSTRACT The evolution of sex determination (SD) mechanisms in teleost fishes is amazingly dynamic, as reflected by the variety different master sex-determining genes identified, even sometimes among closely related species. Pangasiids are a group economically important catfishes many South-Asian countries, but little known about their system. Here, we generated novel genomic resources for 12 Pangasiid species and provided first characterization SD Based on an Oxford Nanopore long-read...