{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:48:58Z","timestamp":1790768938548,"version":"4.1.0"},"reference-count":49,"publisher":"eLife Sciences Publications, Ltd","license":[{"start":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T00:00:00Z","timestamp":1703116800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T00:00:00Z","timestamp":1703116800000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T00:00:00Z","timestamp":1703116800000},"content-version":"tdm","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":["32370905"],"award-info":[{"award-number":["32370905"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Key Research and Development Program of China","award":["2019YFA0802101"],"award-info":[{"award-number":["2019YFA0802101"]}]},{"name":"Open Fund of Key Laboratory of Cell Proliferation and Regulation Biology, Ministry of Education"}],"content-domain":{"domain":["elifesciences.org"],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>\n                    Male infertility is a worldwide population health concern. Asthenoteratozoospermia is a common cause of male infertility, but its etiology remains incompletely understood. No evidence indicates the relevance of\n                    <jats:italic>CFAP52<\/jats:italic>\n                    mutations to human male infertility. Our whole-exome sequencing identified compound heterozygous mutations in\n                    <jats:italic>CFAP52<\/jats:italic>\n                    recessively cosegregating with male infertility status in a non-consanguineous Chinese family. Spermatozoa of\n                    <jats:italic>CFAP52<\/jats:italic>\n                    -mutant patient mainly exhibited abnormal head-tail connection and deformed flagella.\n                    <jats:italic>Cfap52<\/jats:italic>\n                    -knockout mice resembled the human infertile phenotype, showing a mixed acephalic spermatozoa syndrome (ASS) and multiple morphological abnormalities of the sperm flagella (MMAF) phenotype. The ultrastructural analyses further revealed a failure of connecting piece formation and a serious disorder of \u20189+2\u2019 axoneme structure. CFAP52 interacts with a head-tail coupling regulator SPATA6 and is essential for its stability. Expression of microtubule inner proteins and radial spoke proteins were reduced after the CFAP52 deficiency. Moreover, CFAP52-associated male infertility in humans and mice could be overcome by intracytoplasmic sperm injection (ICSI). The study reveals a prominent role for CFAP52 in sperm development, suggesting that CFAP52 might be a novel diagnostic target for male infertility with defects of sperm head-tail connection and flagella development\n                  <\/jats:p>","DOI":"10.7554\/elife.92769","type":"journal-article","created":{"date-parts":[[2023,11,23]],"date-time":"2023-11-23T10:31:30Z","timestamp":1700735490000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.92769","source":"Crossref","is-referenced-by-count":13,"title":["Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development"],"prefix":"10.7554","volume":"12","author":[{"given":"Hui-Juan","family":"Jin","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/022k4wk35","id-type":"ROR","asserted-by":"publisher"}],"name":"Key Laboratory of Cell Proliferation and Regulation Biology, Ministry of Education, Department of Biology, College of Life 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