{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T06:49:49Z","timestamp":1780987789514,"version":"3.54.1"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,12,26]],"date-time":"2023-12-26T00:00:00Z","timestamp":1703548800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2702701"],"award-info":[{"award-number":["2022YFC2702701"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Nonobstructive azoospermia (NOA), the most severe manifestation of male infertility, lacks a comprehensive understanding of its genetic etiology. Here, a bi\u2010allelic loss\u2010of\u2010function variant in\n                    <jats:italic>REC114<\/jats:italic>\n                    (c.568C\u2009&gt;\u2009T: p.Gln190*) were identified through whole exome sequencing (WES) in a Chinese NOA patient. Testicular histopathological analysis and meiotic chromosomal spread analysis were conducted to assess the stage of spermatogenesis arrested. Co\u2010immunoprecipitation (Co\u2010IP) and Western blot (WB) were used to investigate the influence of variant in vitro. In addition, our results revealed that the variant resulted in truncated REC114 protein and impaired interaction with MEI4, which was essential for meiotic DNA double\u2010strand break (DSB) formation. As far as we know, this study presents the first report that identifies\n                    <jats:italic>REC114<\/jats:italic>\n                    as the causative gene for male infertility. Furthermore, our study demonstrated indispensability of the REC114\u2010MEI4 complex in maintaining DSB homoeostasis, and highlighted that the disruption of the complex due to the\n                    <jats:italic>REC114<\/jats:italic>\n                    variant may underline the mechanism of NOA.\n                  <\/jats:p>","DOI":"10.1111\/cge.14473","type":"journal-article","created":{"date-parts":[[2023,12,26]],"date-time":"2023-12-26T21:05:05Z","timestamp":1703624705000},"page":"440-445","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A bi\u2010allelic\n                    <scp>\n                      <i>REC114<\/i>\n                    <\/scp>\n                    loss\u2010of\u2010function variant causes meiotic arrest and nonobstructive azoospermia"],"prefix":"10.1111","volume":"105","author":[{"given":"Shuai","family":"Xu","sequence":"first","affiliation":[{"name":"School of Life Science and Technology ShanghaiTech University  Shanghai China"},{"name":"Department of Andrology, Center for Men's Health, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Department of ART, Institute of Urology, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingpeng","family":"Zhao","sequence":"additional","affiliation":[{"name":"State Key Lab of Reproductive Medicine Nanjing Medical University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Gao","sequence":"additional","affiliation":[{"name":"Pathology Center, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuxiang","family":"Zhang","sequence":"additional","affiliation":[{"name":"School of Life Science and Technology ShanghaiTech University  Shanghai China"},{"name":"Department of Andrology, Center for Men's Health, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Department of ART, Institute of Urology, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaqiang","family":"Luo","sequence":"additional","affiliation":[{"name":"School of Life Science and Technology ShanghaiTech University  Shanghai China"},{"name":"Department of Andrology, Center for Men's Health, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Department of ART, Institute of Urology, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenwang","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Lab of Reproductive Medicine Nanjing Medical University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruhui","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Andrology, Center for Men's Health, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Department of ART, Institute of Urology, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erlei","family":"Zhi","sequence":"additional","affiliation":[{"name":"Department of Andrology, Center for Men's Health, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Department of ART, Institute of Urology, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianxiong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Andrology, Center for Men's Health, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Department of ART, Institute of Urology, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Furong","family":"Bai","sequence":"additional","affiliation":[{"name":"Department of Andrology, Center for Men's Health, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Department of ART, Institute of Urology, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongfang","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Andrology, Center for Men's Health, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Department of ART, Institute of Urology, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fujun","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Andrology, Center for Men's Health, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Department of ART, Institute of Urology, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuhua","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Andrology, Center for Men's Health, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Department of ART, Institute of Urology, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Andrology, Center for Men's Health, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Department of ART, Institute of Urology, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai 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