{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:48:30Z","timestamp":1790768910256,"version":"4.1.0"},"reference-count":57,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"40","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sci. Adv."],"published-print":{"date-parts":[[2022,10,7]]},"abstract":"<jats:p>Centrosomal protein dysfunction might cause ciliopathies. However, the role of centrosomal proteins in male infertility remains poorly defined. Here, we identified a pathogenic splicing mutation in<jats:italic>CEP78<\/jats:italic>in male infertile patients with severely reduced sperm number and motility, and the typical multiple morphological abnormalities of the sperm flagella phenotype. We further created<jats:italic>Cep78<\/jats:italic>knockout mice, which showed an extremely low sperm count, completely aberrant sperm morphology, and approximately null sperm motility. The infertility of the patients and knockout mice could not be rescued by an intracytoplasmic sperm injection treatment. Mechanistically, CEP78 might regulate USP16 expression, which further stabilizes Tektin levels via the ubiquitination pathway.<jats:italic>Cep78<\/jats:italic>knockout mice also exhibited impairments in retina and outer hair cells of the cochlea. Collectively, our findings identified nonfunctional CEP78 as an indispensable factor contributing to male infertility and revealed a role for this gene in regulating retinal and outer hair cell function in mice.<\/jats:p>","DOI":"10.1126\/sciadv.abn0968","type":"journal-article","created":{"date-parts":[[2022,10,7]],"date-time":"2022-10-07T17:58:32Z","timestamp":1665165512000},"source":"Crossref","is-referenced-by-count":56,"title":["Loss-of-function mutations in<i>CEP78<\/i>cause male infertility in humans and mice"],"prefix":"10.1126","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3330-373X","authenticated-orcid":true,"given":"Xueguang","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Obstetrics\/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3801-6238","authenticated-orcid":true,"given":"Rui","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7153-4243","authenticated-orcid":true,"given":"Chen","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, West China Hospital of Sichuan University, Chengdu 610041, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haotian","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu 610041, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4023-5635","authenticated-orcid":true,"given":"Xiaozhen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Cell Proliferation and Regulation Biology, Ministry of Education, Department of Biology, College of Life Sciences, Beijing Normal University, Beijing 100875, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongyi","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing 400000, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Mental Health Center and Psychiatric Laboratory, State Key Laboratory of Biotherapy, West China Hospital of Sichuan University, Chengdu 610041, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8190-1825","authenticated-orcid":true,"given":"Yang","family":"Yang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, Sichuan University and Collaborative Innovation Center, Chengdu 610041, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Man","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of 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