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We report that CFAP61 is a conserved component of the calmodulin- and radial spoke-associated complex (CSC) of cilia. We find that a CFAP61 splice variant, c.143+5G&amp;gt;A, causes exon skipping\/intron retention in human, inducing a multiple morphological abnormalities of the flagella (MMAF) phenotype. We generated Cfap61 knockout mice that recapitulate the infertility phenotype of the human CFAP61 mutation, but without other symptoms usually observed in PCD. We find that CFAP61 interacts with the CSC, radial spoke stalk and head. During early stages of Cfap61\u2212\/\u2212 spermatid development, the assembly of radial spoke components is impaired. As spermiogenesis progresses, the axoneme in Cfap61\u2212\/\u2212 cells becomes unstable and scatters, and the distribution of intraflagellar transport proteins is disrupted. This study reveals an organ-specific mechanism of axoneme stabilization that is related to male infertility.<\/jats:p>","DOI":"10.1242\/dev.199805","type":"journal-article","created":{"date-parts":[[2021,11,18]],"date-time":"2021-11-18T06:31:53Z","timestamp":1637217113000},"source":"Crossref","is-referenced-by-count":62,"title":["CFAP61 is required for sperm flagellum formation and male fertility in human and mouse"],"prefix":"10.1242","volume":"148","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3596-6601","authenticated-orcid":false,"given":"Siyu","family":"Liu","sequence":"first","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, 211166, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3488-636X","authenticated-orcid":false,"given":"Jintao","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, 211166, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zine Eddine","family":"Kherraf","sequence":"additional","affiliation":[{"name":"Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Grenoble, F-38000, France"},{"name":"CHU de Grenoble, UM GI-DPI, Grenoble, F-38000, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0730-3066","authenticated-orcid":false,"given":"Shuya","family":"Sun","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, 211166, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, 211166, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8962-3447","authenticated-orcid":false,"given":"Caroline","family":"Cazin","sequence":"additional","affiliation":[{"name":"Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Grenoble, F-38000, France"},{"name":"CHU de Grenoble, UM GI-DPI, Grenoble, F-38000, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Coutton","sequence":"additional","affiliation":[{"name":"Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Grenoble, F-38000, France"},{"name":"CHU de Grenoble, UM de G\u00e9n\u00e9tique Chromosomique, Grenoble, F-38000, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoudha","family":"Zouari","sequence":"additional","affiliation":[{"name":"Polyclinique les Jasmins, Centre d'Aide M\u00e9dicale \u00e0 la Procr\u00e9ation, Centre Urbain Nord, 1003 Tunis, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuqin","family":"Zhao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine, Animal Core Facility of Nanjing Medical University, Nanjing 211166, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Hu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, 211166, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0107-6440","authenticated-orcid":false,"given":"Selima","family":"Fourati Ben Mustapha","sequence":"additional","affiliation":[{"name":"Polyclinique les Jasmins, Centre d'Aide M\u00e9dicale \u00e0 la Procr\u00e9ation, Centre Urbain Nord, 1003 Tunis, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Arnoult","sequence":"additional","affiliation":[{"name":"Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Grenoble, F-38000, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1544-7449","authenticated-orcid":false,"given":"Pierre F.","family":"Ray","sequence":"additional","affiliation":[{"name":"Univ. 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