{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:58:31Z","timestamp":1791928711774,"version":"4.3.4"},"reference-count":38,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T00:00:00Z","timestamp":1724716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82071701"],"award-info":[{"award-number":["82071701"]}],"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":["81972641"],"award-info":[{"award-number":["81972641"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003995","name":"Natural Science Foundation of Anhui Province","doi-asserted-by":"publisher","award":["1908085J28"],"award-info":[{"award-number":["1908085J28"]}],"id":[{"id":"10.13039\/501100003995","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Andrology"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Oligoasthenoteratozoospermia (OAT) is a common cause of male infertility, of which the causes remain largely unknown. Recently, BCORL1 was identified as a contributor to male infertility from non\u2010obstructive azoospermia (NOA) to OAT.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To identify novel and hotspot variants in <jats:italic>BCORL1<\/jats:italic> from infertile men with OAT and reveal their outcomes of assisted reproductive treatments (ARTs).<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and methods<\/jats:title><jats:p>Forty\u2010six infertile men characterized by OAT were recruited from 2017 to 2022. Variants in OAT patients were identified by whole\u2010exome sequencing (WES) and verified by Sanger sequencing. Papanicolaou staining was used for sperm morphology analysis. Pathogenicity of <jats:italic>BCORL1<\/jats:italic> variants were analyzed by bioinformatics analysis, and further confirmed in vitro by using recombinant plasmids and cells. Meanwhile, ARTs were performed on these patients to investigate the appropriate clinical treatment strategy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a novel hemizygous missense variant (NM_021946: c.G4171A; p.G1391R) and a recurrent variant (NM_021946: c.T2615G; p.V872G) in <jats:italic>BCORL1<\/jats:italic> from four OAT patients. Notably, routine semen assessment and Papanicolaou staining revealed a special OAT phenotype of patients with <jats:italic>BCORL1<\/jats:italic> variants, whose rare mature sperm characterized by acephalic and abnormal acrosome. Pathogenicity analysis showed the interaction between BCORL1 with histone deacetylases (HDACs) were disrupted after variance, accompanied with epigenetic alterations and finally the orderly transcriptions of spermatogenetic genes were interfering. Besides, clinical record presented the poor outcomes of ARTs in these patients with <jats:italic>BCORL1<\/jats:italic> variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion and conclusions<\/jats:title><jats:p>Our findings further expand the variant spectrum of <jats:italic>BCORL1<\/jats:italic> related to OAT, and provide new evidences that BCORL1 acts as an important transcriptional regulator, participating in epigenetic regulation and directing the expression of key genes throughout spermatogenesis. The outcomes of ARTs will facilitate the genetic counseling and clinical treatment of infertile men with <jats:italic>BCORL1<\/jats:italic> variants in the future.<\/jats:p><\/jats:sec>","DOI":"10.1111\/andr.13743","type":"journal-article","created":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T13:56:01Z","timestamp":1724766961000},"page":"1261-1269","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel and recurrent hemizygous variants in <i>BCORL1<\/i> cause oligoasthenoteratozoospermia by interfering transcription"],"prefix":"10.1111","volume":"13","author":[{"given":"Yu","family":"Wang","sequence":"first","affiliation":[{"name":"Reproductive Medicine Center Department of Obstetrics and Gynecology the Second Affiliated Hospital of Anhui Medical University  Hefei Anhui China"},{"name":"Reproductive Medicine Center Department of Obstetrics and Gynecology the First Affiliated Hospital of Anhui Medical 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