{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T19:36:14Z","timestamp":1790451374894,"version":"4.1.0"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"18","license":[{"start":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T00:00:00Z","timestamp":1752710400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"National Key Research and Developmental Program of China","award":["2022YFC2702601"],"award-info":[{"award-number":["2022YFC2702601"]}]},{"name":"National Key Research and Developmental Program of China","award":["2022YFA0806303"],"award-info":[{"award-number":["2022YFA0806303"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32270901"],"award-info":[{"award-number":["32270901"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["U21A20204"],"award-info":[{"award-number":["U21A20204"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171601"],"award-info":[{"award-number":["82171601"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Global Select Project","award":["DJK-LX-2022010"],"award-info":[{"award-number":["DJK-LX-2022010"]}]},{"name":"Institute of Health and Medicine, Hefei Comprehensive National Science Center"},{"name":"Joint Fund for New Medicine of USTC","award":["YD9100002034"],"award-info":[{"award-number":["YD9100002034"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of male infertility, linked to defective spermiogenesis. Several flagella-associated proteins have been identified as crucial for the proper organization of the sperm flagellar axoneme. We identify a novel homozygous mutation in the CFAP58 gene (c.562C\u2009&amp;gt;\u2009T, p. R188*) that co-segregates with the multiple morphological abnormalities of the flagella (MMAF) phenotype in two unrelated consanguineous families from Pakistan. To validate the pathogenicity of this mutation, we developed a Cfap58 mutant mouse model to mimic the patient mutation. The Cfap58M\/M mice exhibited infertility and recapitulated the MMAF phenotype observed in human patients. Transmission electron microscopy (TEM) analysis revealed the absence of the central pair (CP) of microtubules in the axonemal structure of sperm flagella. Further analysis demonstrated that the CFAP58 mutation disrupts CP assembly during spermiogenesis, leading to disorganization of axonemal proteins in both human and mouse sperm flagella. Our findings underscore the essential and conserved role of CFAP58 in sperm axoneme assembly and suggests that CFAP58 can serve as a genetic screening marker in the diagnosis and genetic counseling of MMAF and male infertility.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf070","type":"journal-article","created":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T22:49:50Z","timestamp":1752792590000},"page":"1575-1583","source":"Crossref","is-referenced-by-count":4,"title":["A novel mutation in <i>CFAP58<\/i> leads to MMAF in humans and mice by disrupting CP assembly"],"prefix":"10.1093","volume":"34","author":[{"given":"Tanveer","family":"Abbas","sequence":"first","affiliation":[{"name":"Division of Reproduction and Genetics, First Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Research Center for Physical Sciences at the Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China , 443 Huangshan Road, Hefei, Anhui Province 230027 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Division of Reproduction and Genetics, First Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Research Center for Physical Sciences at the Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China , 443 Huangshan Road, Hefei, Anhui Province 230027 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Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China , 443 Huangshan Road, Hefei, Anhui Province 230027 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Jingwei","sequence":"additional","affiliation":[{"name":"Division of Reproduction and Genetics, First Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Research Center for Physical Sciences at the Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China , 443 Huangshan Road, Hefei, Anhui Province 230027 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Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China , 443 Huangshan Road, Hefei, Anhui Province 230027 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghulam","family":"Murtaza","sequence":"additional","affiliation":[{"name":"Division of Reproduction and Genetics, First Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Research Center for Physical Sciences at the Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China , 443 Huangshan Road, Hefei, Anhui Province 230027 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