{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:33:16Z","timestamp":1792787596918,"version":"4.5.0"},"reference-count":57,"publisher":"American Society for Clinical Investigation","issue":"3","license":[{"start":{"date-parts":[[2023,2,8]],"date-time":"2023-02-08T00:00:00Z","timestamp":1675814400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["32070850,81971333,81971446,82171599,U21A20204"],"award-info":[{"award-number":["32070850,81971333,81971446,82171599,U21A20204"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Key Research and Developmental Program of China","award":["2019YFA0802600,2021YFC2700202"],"award-info":[{"award-number":["2019YFA0802600,2021YFC2700202"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,2,8]]},"abstract":"<jats:p>\n                    Multiple morphological abnormalities of the sperm flagella (MMAF) are the most severe form of asthenozoospermia due to impaired axoneme structure in sperm flagella. Dynein arms are necessary components of the sperm flagellar axoneme. In this study, we recruited 3 unrelated consanguineous Pakistani families with multiple MMAF-affected individuals, who had no overt ciliary symptoms. Whole-exome sequencing and Sanger sequencing identified 2 cilia and flagella associated protein 57 (\n                    <jats:italic>CFAP57<\/jats:italic>\n                    ) loss-of-function mutations (c.2872C&gt;T, p. R958*; and c.2737C&gt;T, p. R913*) recessively segregating with male infertility. A mouse model mimicking the mutation (c.2872C&gt;T) was generated and recapitulated the typical MMAF phenotype of\n                    <jats:italic>CFAP57<\/jats:italic>\n                    -mutated individuals. Both\n                    <jats:italic>CFAP57<\/jats:italic>\n                    mutations caused loss of the long transcript-encoded CFAP57 protein in spermatozoa from MMAF-affected individuals or from the\n                    <jats:italic>Cfap57<\/jats:italic>\n                    -mutant mouse model while the short transcript was not affected. Subsequent examinations of the spermatozoa from\n                    <jats:italic>Cfap57<\/jats:italic>\n                    -mutant mice revealed that CFAP57 deficiency disrupted the inner dynein arm (IDA) assembly in sperm flagella and that single-headed IDAs were more likely to be affected. Thus, our study identified 2 pathogenic mutations in\n                    <jats:italic>CFAP57<\/jats:italic>\n                    in MMAF-affected individuals and reported a conserved and pivotal role for the long transcript-encoded CFAP57 in IDAs\u2019 assembly and male fertility.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.166869","type":"journal-article","created":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T14:01:40Z","timestamp":1675778500000},"source":"Crossref","is-referenced-by-count":42,"title":["Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice"],"prefix":"10.1172","volume":"8","author":[{"given":"Ao","family":"Ma","sequence":"first","affiliation":[{"name":"Division of Reproduction and Genetics, First Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1127-749X","authenticated-orcid":true,"given":"Jianteng","family":"Zhou","sequence":"additional","affiliation":[{"name":"Division of Reproduction and Genetics, First Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0519-3625","authenticated-orcid":true,"given":"Haider","family":"Ali","sequence":"additional","affiliation":[{"name":"Division of Reproduction and Genetics, First Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanveer","family":"Abbas","sequence":"additional","affiliation":[{"name":"Division of Reproduction and Genetics, First Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei, 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