Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human
Asthenozoospermia is a major cause of male infertility, and multiple morphological abnormalities of the flagella (MMAF) is a particularly severe form. Here, using whole-exome sequencing of 78 MMAF patients, the authors identify mutations in two WDR proteins, CFAP43 and CFAP44, and confirm that these...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2018-02-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-017-02792-7 |
| _version_ | 1818978555225178112 |
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| author | Charles Coutton Alexandra S. Vargas Amir Amiri-Yekta Zine-Eddine Kherraf Selima Fourati Ben Mustapha Pauline Le Tanno Clémentine Wambergue-Legrand Thomas Karaouzène Guillaume Martinez Serge Crouzy Abbas Daneshipour Seyedeh Hanieh Hosseini Valérie Mitchell Lazhar Halouani Ouafi Marrakchi Mounir Makni Habib Latrous Mahmoud Kharouf Jean-François Deleuze Anne Boland Sylviane Hennebicq Véronique Satre Pierre-Simon Jouk Nicolas Thierry-Mieg Beatrice Conne Denis Dacheux Nicolas Landrein Alain Schmitt Laurence Stouvenel Patrick Lorès Elma El Khouri Serge P. Bottari Julien Fauré Jean-Philippe Wolf Karin Pernet-Gallay Jessica Escoffier Hamid Gourabi Derrick R. Robinson Serge Nef Emmanuel Dulioust Raoudha Zouari Mélanie Bonhivers Aminata Touré Christophe Arnoult Pierre F. Ray |
| author_facet | Charles Coutton Alexandra S. Vargas Amir Amiri-Yekta Zine-Eddine Kherraf Selima Fourati Ben Mustapha Pauline Le Tanno Clémentine Wambergue-Legrand Thomas Karaouzène Guillaume Martinez Serge Crouzy Abbas Daneshipour Seyedeh Hanieh Hosseini Valérie Mitchell Lazhar Halouani Ouafi Marrakchi Mounir Makni Habib Latrous Mahmoud Kharouf Jean-François Deleuze Anne Boland Sylviane Hennebicq Véronique Satre Pierre-Simon Jouk Nicolas Thierry-Mieg Beatrice Conne Denis Dacheux Nicolas Landrein Alain Schmitt Laurence Stouvenel Patrick Lorès Elma El Khouri Serge P. Bottari Julien Fauré Jean-Philippe Wolf Karin Pernet-Gallay Jessica Escoffier Hamid Gourabi Derrick R. Robinson Serge Nef Emmanuel Dulioust Raoudha Zouari Mélanie Bonhivers Aminata Touré Christophe Arnoult Pierre F. Ray |
| author_sort | Charles Coutton |
| collection | DOAJ |
| description | Asthenozoospermia is a major cause of male infertility, and multiple morphological abnormalities of the flagella (MMAF) is a particularly severe form. Here, using whole-exome sequencing of 78 MMAF patients, the authors identify mutations in two WDR proteins, CFAP43 and CFAP44, and confirm that these proteins are required for flagellogenesis in mouse and Trypanosoma brucei. |
| first_indexed | 2024-12-20T16:45:30Z |
| format | Article |
| id | doaj.art-03b883f351d94cb6999191bf43221e62 |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-12-20T16:45:30Z |
| publishDate | 2018-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-03b883f351d94cb6999191bf43221e622022-12-21T19:32:57ZengNature PortfolioNature Communications2041-17232018-02-019111810.1038/s41467-017-02792-7Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and humanCharles Coutton0Alexandra S. Vargas1Amir Amiri-Yekta2Zine-Eddine Kherraf3Selima Fourati Ben Mustapha4Pauline Le Tanno5Clémentine Wambergue-Legrand6Thomas Karaouzène7Guillaume Martinez8Serge Crouzy9Abbas Daneshipour10Seyedeh Hanieh Hosseini11Valérie Mitchell12Lazhar Halouani13Ouafi Marrakchi14Mounir Makni15Habib Latrous16Mahmoud Kharouf17Jean-François Deleuze18Anne Boland19Sylviane Hennebicq20Véronique Satre21Pierre-Simon Jouk22Nicolas Thierry-Mieg23Beatrice Conne24Denis Dacheux25Nicolas Landrein26Alain Schmitt27Laurence Stouvenel28Patrick Lorès29Elma El Khouri30Serge P. Bottari31Julien Fauré32Jean-Philippe Wolf33Karin Pernet-Gallay34Jessica Escoffier35Hamid Gourabi36Derrick R. Robinson37Serge Nef38Emmanuel Dulioust39Raoudha Zouari40Mélanie Bonhivers41Aminata Touré42Christophe Arnoult43Pierre F. Ray44Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble AlpesGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble AlpesGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble AlpesGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble AlpesPolyclinique les Jasmins, Centre d’Aide Médicale à la Procréation, Centre Urbain NordGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble AlpesGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble AlpesGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble AlpesGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble AlpesLaboratoire de Chimie et Biologie des Métaux, Institut de Recherche en Technologie et Sciences pour le Vivant, CEA iRTSV/LCBM/GMCT, CNRS UMR 5249, Université Grenoble AlpesDepartment of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACERDepartment of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECREA 4308, Department of Reproductive Biology and Spermiology-CECOS Lille, University Medical CenterPolyclinique les Jasmins, Centre d’Aide Médicale à la Procréation, Centre Urbain NordPolyclinique les Jasmins, Centre d’Aide Médicale à la Procréation, Centre Urbain NordPolyclinique les Jasmins, Centre d’Aide Médicale à la Procréation, Centre Urbain NordPolyclinique les Jasmins, Centre d’Aide Médicale à la Procréation, Centre Urbain NordPolyclinique les Jasmins, Centre d’Aide Médicale à la Procréation, Centre Urbain NordCentre National de Génotypage, Institut de Génomique, CEACentre National de Génotypage, Institut de Génomique, CEAGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble AlpesGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble AlpesCHU de Grenoble, UF de Génétique MédicaleUniv. Grenoble Alpes/CNRS TIMC-IMAGDepartment of Genetic Medicine and Development, University of Geneva Medical SchoolMicrobiologie Fondamentale et Pathogénicité CNRS UMR 5234, University BordeauxMicrobiologie Fondamentale et Pathogénicité CNRS UMR 5234, University BordeauxInstitut National de la Santé et de la Recherche Médicale, INSERM U1016, Institut CochinInstitut National de la Santé et de la Recherche Médicale, INSERM U1016, Institut CochinInstitut National de la Santé et de la Recherche Médicale, INSERM U1016, Institut CochinInstitut National de la Santé et de la Recherche Médicale, INSERM U1016, Institut CochinGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble AlpesCHU de Grenoble UF de Biochimie Génétique et MoléculaireSorbonne Paris Cité, Faculté de Médecine, Université Paris DescartesGrenoble Neuroscience Institute, INSERM 1216Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble AlpesDepartment of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACERMicrobiologie Fondamentale et Pathogénicité CNRS UMR 5234, University BordeauxDepartment of Genetic Medicine and Development, University of Geneva Medical SchoolSorbonne Paris Cité, Faculté de Médecine, Université Paris DescartesPolyclinique les Jasmins, Centre d’Aide Médicale à la Procréation, Centre Urbain NordMicrobiologie Fondamentale et Pathogénicité CNRS UMR 5234, University BordeauxInstitut National de la Santé et de la Recherche Médicale, INSERM U1016, Institut CochinGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble AlpesGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble AlpesAsthenozoospermia is a major cause of male infertility, and multiple morphological abnormalities of the flagella (MMAF) is a particularly severe form. Here, using whole-exome sequencing of 78 MMAF patients, the authors identify mutations in two WDR proteins, CFAP43 and CFAP44, and confirm that these proteins are required for flagellogenesis in mouse and Trypanosoma brucei.https://doi.org/10.1038/s41467-017-02792-7 |
| spellingShingle | Charles Coutton Alexandra S. Vargas Amir Amiri-Yekta Zine-Eddine Kherraf Selima Fourati Ben Mustapha Pauline Le Tanno Clémentine Wambergue-Legrand Thomas Karaouzène Guillaume Martinez Serge Crouzy Abbas Daneshipour Seyedeh Hanieh Hosseini Valérie Mitchell Lazhar Halouani Ouafi Marrakchi Mounir Makni Habib Latrous Mahmoud Kharouf Jean-François Deleuze Anne Boland Sylviane Hennebicq Véronique Satre Pierre-Simon Jouk Nicolas Thierry-Mieg Beatrice Conne Denis Dacheux Nicolas Landrein Alain Schmitt Laurence Stouvenel Patrick Lorès Elma El Khouri Serge P. Bottari Julien Fauré Jean-Philippe Wolf Karin Pernet-Gallay Jessica Escoffier Hamid Gourabi Derrick R. Robinson Serge Nef Emmanuel Dulioust Raoudha Zouari Mélanie Bonhivers Aminata Touré Christophe Arnoult Pierre F. Ray Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human Nature Communications |
| title | Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human |
| title_full | Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human |
| title_fullStr | Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human |
| title_full_unstemmed | Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human |
| title_short | Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human |
| title_sort | mutations in cfap43 and cfap44 cause male infertility and flagellum defects in trypanosoma and human |
| url | https://doi.org/10.1038/s41467-017-02792-7 |
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