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1. Identification of a New QTL Region on Mouse Chromosome 1 Responsible for Male Hypofertility: Phenotype Characterization and Candidate Genes

Author

Magalie Vatin, Marie-Sophie Girault, Virginie Firlej, Carmen Marchiol, Côme Ialy-Radio, Xavier Montagutelli, Daniel Vaiman, Sandrine Barbaux, and Ahmed Ziyyat

Subjects
infertility, spermatogenesis, teratozoospermia, globozoospermia, IRCS, Biology (General), QH301-705.5, Chemistry, QD1-999
Abstract

Male fertility disorders often have their origin in disturbed spermatogenesis, which can be induced by genetic factors. In this study, we used interspecific recombinant congenic mouse strains (IRCS) to identify genes responsible for male infertility. Using ultrasonography, in vivo and in vitro fertilization (IVF) and electron microscopy, the phenotyping of several IRCS carrying mouse chromosome 1 segments of Mus spretus origin revealed a decrease in the ability of sperm to fertilize. This teratozoospermia included the abnormal anchoring of the acrosome to the nucleus and a persistence of residual bodies at the level of epididymal sperm midpiece. We identified a quantitative trait locus (QTL) responsible for these phenotypes and we have proposed a short list of candidate genes specifically expressed in spermatids. The future functional validation of candidate genes should allow the identification of new genes and mechanisms involved in male infertility.

Published
2020
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2. Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans

Author

Paul Laissue, Besma Lakhal, Magalie Vatin, Frank Batista, Gaëtan Burgio, Eric Mercier, Esther Dos Santos, Christophe Buffat, Diana Carolina Sierra-Diaz, Gilles Renault, Xavier Montagutelli, Jane Salmon, Philippe Monget, Reiner A. Veitia, Céline Méhats, Marc Fellous, Jean-Christophe Gris, Julie Cocquet, and Daniel Vaiman

Subjects
recurrent spontaneous abortion, implantation, interspecific recombinant congenic mice, Biology (General), QH301-705.5
Abstract

Recurrent spontaneous abortion (RSA) is a common cause of infertility, but previous attempts at identifying RSA causative genes have been relatively unsuccessful. Such failure to describe RSA aetiological genes might be explained by the fact that reproductive phenotypes should be considered as quantitative traits resulting from the intricate interaction of numerous genetic, epigenetic and environmental factors. Here, we studied an interspecific recombinant congenic strain (IRCS) of Mus musculus from the C57BL6/J strain of mice harbouring an approximate 5 Mb DNA fragment from chromosome 13 from Mus spretus mice (66H-MMU13 strain), with a high rate of embryonic resorption (ER). Transcriptome analyses of endometrial and placental tissues from these mice showed a deregulation of many genes associated with the coagulation and inflammatory response pathways. Bioinformatics approaches led us to select Foxd1 as a candidate gene potentially related to ER and RSA. Sequencing analysis of Foxd1 in the 66H-MMU13 strain, and in 556 women affected by RSA and 271 controls revealed non-synonymous sequence variants. In vitro assays revealed that some led to perturbations in FOXD1 transactivation properties on promoters of genes having key roles during implantation/placentation, suggesting a role of this gene in mammalian implantation processes.

Published
2016
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3. Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death.

Author

Magalie Vatin, Gaetan Burgio, Gilles Renault, Paul Laissue, Virginie Firlej, Françoise Mondon, Xavier Montagutelli, Daniel Vaiman, Catherine Serres, and Ahmed Ziyyat

Subjects
Medicine, Science
Abstract

Recurrent spontaneous abortion (RSA) is defined as the loss of three or more consecutive pregnancies during the first trimester of embryonic intrauterine development. This kind of human infertility is frequent among the general population since it affects 1 to 5% of women. In half of the cases the etiology remains unelucidated. In the present study, we used interspecific recombinant congenic mouse strains (IRCS) in the aim to identify genes responsible for embryonic lethality. Applying a cartographic approach using a genotype/phenotype association, we identified a minimal QTL region, of about 6 Mb on chromosome 1, responsible for a high rate of embryonic death (∼30%). Genetic analysis suggests that the observed phenotype is linked to uterine dysfunction. Transcriptomic analysis of the uterine tissue revealed a preferential deregulation of genes of this region compared to the rest of the genome. Some genes from the QTL region are associated with VEGF signaling, mTOR signaling and ubiquitine/proteasome-protein degradation pathways. This work may contribute to elucidate the molecular basis of a multifactorial and complex human disorder as RSA.

Published
2012
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4. Fidgetin-like1 is a strong candidate for a dynamic impairment of male meiosis leading to reduced testis weight in mice.

Author

David L'Hôte, Magalie Vatin, Jana Auer, Johan Castille, Bruno Passet, Xavier Montagutelli, Catherine Serres, and Daniel Vaiman

Subjects
Medicine, Science
Abstract

BACKGROUND: In a previous work, using an interspecific recombinant congenic mouse model, we reported a genomic region of 23 Mb on mouse chromosome 11 implicated in testis weight decrease and moderate teratozoospermia (∼20-30%), a Quantitative Trait Locus (QTL) called Ltw1. The objective of the present study is to identify the gene underlying this phenotype. RESULTS: In the present study, we refined the QTL position to a 5 Mb fragment encompassing only 11 genes. We showed that the low testis weight phenotype was due to kinetic alterations occurring during the first wave of the spermatogenesis where we could point out to an abnormal lengthening of spermatocyte prophase. We identify Fidgetin-like 1 (Fignl1) as the gene underlying the phenotype, since if fulfilled both the physiological and molecular characteristics required. Indeed, amongst the 11 positional candidates it is the only gene that is expressed during meiosis at the spermatocyte stage, and that presents with non-synonymous coding variations differentiating the two mouse strains at the origin of the cross. CONCLUSIONS: This work prompted us to propose Fignl1 as a novel actor in mammal's male meiosis dynamics which has fundamental interest. Besides, this gene is a new potential candidate for human infertilities caused by teratozoospermia and blockades of spermatogenesis. In addition this study demonstrates that interspecific models may be useful for understanding complex quantitative traits.

Published
2011
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5. Identification of a New QTL Region on Mouse Chromosome 1 Responsible for Male Hypofertility: Phenotype Characterization and Candidate Genes

Author

Daniel Vaiman, Magalie Vatin, Ahmed Ziyyat, Xavier Montagutelli, Sandrine Barbaux, Marie-Sophie Girault, Virginie Firlej, Côme Ialy-Radio, Carmen Marchiol, MONTAGUTELLI, Xavier, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Génétique de la souris - Mouse Genetics, Institut Pasteur [Paris] (IP), Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), This research received no external funding. This work was supported by the Institut National de la Santé et de la Recherche Médicale (INSERM), the Centre National de la Recherche Scientifique (CNRS), the Université de Paris., Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Institut Pasteur [Paris], Hôpital Cochin [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

Subjects
Male, Candidate gene, globozoospermia, Male infertility, lcsh:Chemistry, Mice, 0302 clinical medicine, lcsh:QH301-705.5, Spectroscopy, Epididymis, Genetics, 0303 health sciences, biology, teratozoospermia, General Medicine, Spermatids, Spermatozoa, Phenotype, Computer Science Applications, Chromosomes, Human, Pair 1, Female, infertility, Acrosome, Mus spretus, Quantitative Trait Loci, Congenic, [SDV.GEN.GA] Life Sciences [q-bio]/Genetics/Animal genetics, Quantitative trait locus, Article, Catalysis, Inorganic Chemistry, 03 medical and health sciences, IRCS, medicine, Animals, Humans, Physical and Theoretical Chemistry, Molecular Biology, Gene, Infertility, Male, 030304 developmental biology, Cell Nucleus, Mouse Model, Organic Chemistry, Chromosome, biology.organism_classification, medicine.disease, spermatogenesis, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, lcsh:Biology (General), lcsh:QD1-999, 030217 neurology & neurosurgery
Abstract

We thank C. Serres for scientific discussions, the staff of the animal facility of Institut Pasteur (Paris) for the IRCS breeding and A. Schmitt from the Plateforme imagerie: Microscopie Electronique of the Cochin Institute (Paris) for his technical assistance.; International audience; Male fertility disorders often have their origin in disturbed spermatogenesis, which can be induced by genetic factors. In this study, we used interspecific recombinant congenic mouse strains (IRCS) to identify genes responsible for male infertility. Using ultrasonography, in vivo and in vitro fertilization (IVF) and electron microscopy, the phenotyping of several IRCS carrying mouse chromosome 1 segments of Mus spretus origin revealed a decrease in the ability of sperm to fertilize. This teratozoospermia included the abnormal anchoring of the acrosome to the nucleus and a persistence of residual bodies at the level of epididymal sperm midpiece. We identified a quantitative trait locus (QTL) responsible for these phenotypes and we have proposed a short list of candidate genes specifically expressed in spermatids. The future functional validation of candidate genes should allow the identification of new genes and mechanisms involved in male infertility.

Published
2020

6. Polymorphisms of Human Placental Alkaline Phosphatase Are Associated with in Vitro Fertilization Success and Recurrent Pregnancy Loss

Author

Sylvie Bouvier, Philippe de Mazancourt, Daniel Vaiman, Xavier Montagutelli, Etienne Mornet, Ahmed Ziyyat, Magalie Vatin, Marie Noelle Dieudonné, Jean-Christophe Gris, L. Bellazi, Catherine Serres, Paul Laissue, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5), Caractéristiques féminines des dysfonctions des interfaces cardio-vasculaires (EA 2992), Université Montpellier 1 (UM1)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Département d'hématologie biologique[Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Saint Eloi (CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Génétique fonctionnelle de la Souris, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Universidad del Rosario [Bogota], We thank Drs. Eva Nouvellon and Eric Mercier for their skillful assistance, Emilie Saurel for her help in sequence analysis, and the two reviewers for their insightful comments that improved the manuscript., Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-CHU Saint-Eloi, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Université de Montpellier (UM)-Université Montpellier 1 (UM1), and Centre Hospitalier Régional Universitaire de Nîmes (CHRU Nîmes)

Subjects
Reproducibility of results, single nucleotide, Candidate gene, Mouse, Genotyping Techniques, Intron, Cos cells, Gene sequence, Cohort Studies, Mice, MESH: Abortion, Spontaneous, Alkaline Phosphatase, Fertilization in Vitro, Genetic Predisposition to Disease, Isoenzymes, Polymorphism, Single Nucleotide, 0302 clinical medicine, Pregnancy, Recurrence, Chlorocebus aethiops, Haplotype, Enzyme activity, Priority journal, Allele, Genetics, 0303 health sciences, education.field_of_study, 030219 obstetrics & reproductive medicine, Open reading frame, 16. Peace & justice, 3. Good health, Retrospective study, Phenotype, COS Cells, Alkaline phosphatase placenta isoenzyme, Cohort studies, Alkaline phosphatase, Female, Human, Infertility, Genotype, Positional cloning, Population, Case control study, Genetic predisposition to disease, Single-nucleotide polymorphism, Major clinical study, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, Biology, GPI-Linked Proteins, Transfection, Article, Pregnancy outcome, Cercopithecus aethiops, Pathology and Forensic Medicine, Andrology, Genotyping techniques, 03 medical and health sciences, medicine, Animals, Humans, Animal model, Gpi-linked proteins, Polymorphism, spontaneous, education, Spontaneous abortion, 030304 developmental biology, Enzyme polymorphism, Fertilization in vitro, Abortion, Reproducibility of Results, Recurrent abortion, Nonhuman, medicine.disease, Single nucleotide polymorphism, Abortion, Spontaneous, Placental alkaline phosphatase, Risk factor, Controlled study, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

Fertility is a quantitative, complex character governed by a considerable number of genes. Despite clinical and scientific advances, several cases of human infertility remain unexplained. In the present study, using a positional cloning approach in a mouse model of interspecific recombinant lines, a candidate gene, ALPP, encoding the placental alkaline phosphatase, was identified as being potentially involved in recurrent spontaneous abortion. We then analyzed patients for detecting putative associations between ALPP polymorphisms, in vitro fertilization failures, and miscarriages. ALPP was sequenced in 100 controls and 100 patients affected by recurrent spontaneous abortion, from the same ethnic background. The frequency of several alleles and allelic combinations were different between recurrent spontaneous abortion and control women. One polymorphism induced a coding substitution (Ile89Leu) that was associated with a decreased risk of abortion and in vitro fertilization failure. Thereafter, the population was increased by the analysis of 92 additional controls and 612 additional patients for the coding polymorphism Ile89Leu. We finally show, by functional analysis, that the 89Leu placental alkaline phosphatase has an enhanced alkaline phosphatase activity. This study suggests that ALPP genotyping could be a strong predictor of implantation success. © 2014 American Society for Investigative Pathology.

Published
2014

7. Nitrogen fixation in a chemoautotrophic lucinid symbiosis

Author

Magalie Vatin, Didier Mbéguié-A-Mbéguié, Andrea Thürmer, Jennifer Tocny, Tjorven Hinzke, Olivier Gros, Stephanie Markert, Ruby Ponnudurai, Rolf Daniel, Anja Poehlein, Thomas Schweder, Stefan E. Heiden, Susann Meyer, Sten König, Dörte Becher, Biologie de la Mangrove (BM), Evolution Paris Seine, Université des Antilles et de la Guyane (UAG)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université des Antilles et de la Guyane (UAG)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), EU [264774], German Science Foundation (DFG) [MA6346/2-1], French National Program EC2CO Biohefect/Ecodyn/Dril/MicrobiEn `Fixation de l'azote chez les bivalves marins de la famille des Lucinidae: impact sur le fonctionnement de ces organismes et des ecosystemes tropicaux cotiers associes', Université des Antilles et de la Guyane (UAG)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Nice Sophia Antipolis (1965 - 2019) (UNS), and COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université des Antilles et de la Guyane (UAG)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Nice Sophia Antipolis (1965 - 2019) (UNS)

Subjects
Gills, 0301 basic medicine, Microbiology (medical), Chemoautotrophic Growth, animal structures, Proteome, 030106 microbiology, Immunology, [SDV.BID]Life Sciences [q-bio]/Biodiversity, Biology, Applied Microbiology and Biotechnology, Microbiology, 03 medical and health sciences, Symbiosis, Nitrogen Fixation, Nitrogenase, Botany, Gammaproteobacteria, Genetics, Animals, 14. Life underwater, Phylogeny, Host (biology), fungi, food and beverages, Sequence Analysis, DNA, Cell Biology, biochemical phenomena, metabolism, and nutrition, biology.organism_classification, Bivalvia, 030104 developmental biology, M40 - Écologie aquatique, Nitrogen fixation, bacteria, Proteobacteria, Oxidoreductases, Metabolic Networks and Pathways, Codakia orbicularis
Abstract

The shallow water bivalve Codakia orbicularis lives in symbiotic association with a sulfur-oxidizing bacterium in its gills. The endosymbiont fixes CO2 and thus generates organic carbon compounds, which support the host's growth. To investigate the uncultured symbiont's metabolism and symbiont–host interactions in detail we conducted a proteogenomic analysis of purified bacteria. Unexpectedly, our results reveal a hitherto completely unrecognized feature of the C. orbicularis symbiont's physiology: the symbiont's genome encodes all proteins necessary for biological nitrogen fixation (diazotrophy). Expression of the respective genes under standard ambient conditions was confirmed by proteomics. Nitrogenase activity in the symbiont was also verified by enzyme activity assays. Phylogenetic analysis of the bacterial nitrogenase reductase NifH revealed the symbiont's close relationship to free-living nitrogen-fixing Proteobacteria from the seagrass sediment. The C. orbicularis symbiont, here tentatively named ‘Candidatus Thiodiazotropha endolucinida’, may thus not only sustain the bivalve's carbon demands. C. orbicularis may also benefit from a steady supply of fixed nitrogen from its symbiont—a scenario that is unprecedented in comparable chemoautotrophic symbioses.

Published
2016

8. Refined Mapping of a Quantitative Trait Locus on Chromosome 1 Responsible for Mouse Embryonic Death

Author

Catherine Serres, Magalie Vatin, Paul Laissue, Daniel Vaiman, Virginie Firlej, Gilles Renault, Françoise Mondon, Xavier Montagutelli, Gaetan Burgio, Ahmed Ziyyat, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique des Mammifères, Institut Pasteur [Paris] (IP), University of Tasmania [Hobart, Australia] (UTAS), Universidad del Rosario [Bogota], Génétique fonctionnelle de la Souris, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), MV is a PhD student funded by the French Ministry of Research (Doctoral School Gc2ID, Université Paris-Descartes)., We thank I. Lanctin and J. Chevalier (Pasteur Institute, Paris) for the IRCS breeding and C. Marchiol (Small animal imaging facility of the Cochin Institute, Paris) for their technical assistance. We thank J. Coquet for critical reading of the manuscript., Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris], and Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)

Subjects
Heredity, MESH: Chromosomes, Mammalian, Gene Expression, Genetic analysis, Gene, MESH: Genotype, Mice, 0302 clinical medicine, MESH: Pregnancy, Pregnancy, MESH: Reverse Transcriptase Polymerase Chain Reaction, Genotype, MESH: Animals, MESH: Embryo Loss, Genetics, 0303 health sciences, education.field_of_study, 030219 obstetrics & reproductive medicine, Multidisciplinary, Reverse Transcriptase Polymerase Chain Reaction, Cell-proliferation, Obstetrics and Gynecology, Genomics, Cytogenetic analysis, Trait Locus, Phenotype, Ginecología, Embryo Loss, Medicine, Female, Research Article, Embarazo, Science, Population, Quantitative Trait Loci, Congenic, Quantitative trait locus, Biology, Recurrent miscarriage, 03 medical and health sciences, Genome Analysis Tools, Animals, education, Trait Locus Analysis, MESH: Mice, 030304 developmental biology, Spontaneous abortion, [SDV.GEN]Life Sciences [q-bio]/Genetics, Lethality, Quantitative Traits, Chromosome, Computational Biology, Prefnancies, Ginecología & otras especialidades médicas, Preeclampsia, Chromosomes, Mammalian, MESH: Quantitative Trait Loci, Aborto, Miscarriage and Stillbirth, Disruption, MESH: Microsatellite Repeats, Animal Genetics, MESH: Female, Microsatellite Repeats, Developmental Biology
Abstract

International audience; Recurrent spontaneous abortion (RSA) is defined as the loss of three or more consecutive pregnancies during the first trimester of embryonic intrauterine development. This kind of human infertility is frequent among the general population since it affects 1 to 5% of women. In half of the cases the etiology remains unelucidated. In the present study, we used interspecific recombinant congenic mouse strains (IRCS) in the aim to identify genes responsible for embryonic lethality. Applying a cartographic approach using a genotype/phenotype association, we identified a minimal QTL region, of about 6 Mb on chromosome 1, responsible for a high rate of embryonic death (,30%). Genetic analysis suggests that the observed phenotype is linked to uterine dysfunction. Transcriptomic analysis of the uterine tissue revealed a preferential deregulation of genes of this region compared to the rest of the genome. Some genes from the QTL region are associated with VEGF signaling, mTOR signaling and ubiquitine/proteasome-protein degradation pathways. This work may contribute to elucidate the molecular basis of a multifactorial and complex human disorder as RSA.

Published
2012

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