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...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/03b883f351d94cb6999191bf43221e62
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spelling	oai:doaj.org-article:03b883f351d94cb6999191bf43221e622021-12-02T17:32:48ZMutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human10.1038/s41467-017-02792-72041-1723https://doaj.org/article/03b883f351d94cb6999191bf43221e622018-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-017-02792-7https://doaj.org/toc/2041-1723Asthenozoospermia 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.Charles CouttonAlexandra S. VargasAmir Amiri-YektaZine-Eddine KherrafSelima Fourati Ben MustaphaPauline Le TannoClémentine Wambergue-LegrandThomas KaraouzèneGuillaume MartinezSerge CrouzyAbbas DaneshipourSeyedeh Hanieh HosseiniValérie MitchellLazhar HalouaniOuafi MarrakchiMounir MakniHabib LatrousMahmoud KharoufJean-François DeleuzeAnne BolandSylviane HennebicqVéronique SatrePierre-Simon JoukNicolas Thierry-MiegBeatrice ConneDenis DacheuxNicolas LandreinAlain SchmittLaurence StouvenelPatrick LorèsElma El KhouriSerge P. BottariJulien FauréJean-Philippe WolfKarin Pernet-GallayJessica EscoffierHamid GourabiDerrick R. RobinsonSerge NefEmmanuel DulioustRaoudha ZouariMélanie BonhiversAminata TouréChristophe ArnoultPierre F. RayNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-18 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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
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.
format	article
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
title	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_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_sort	mutations in cfap43 and cfap44 cause male infertility and flagellum defects in trypanosoma and human
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/03b883f351d94cb6999191bf43221e62
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Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

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