{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:32:42Z","timestamp":1790695962269,"version":"4.1.0"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2022,4,29]],"date-time":"2022-04-29T00:00:00Z","timestamp":1651190400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"National Key Research and Developmental Program of China","award":["2018YFC1004901"],"award-info":[{"award-number":["2018YFC1004901"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81971447"],"award-info":[{"award-number":["81971447"]}],"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":["82171608"],"award-info":[{"award-number":["82171608"]}],"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":["82101961"],"award-info":[{"award-number":["82101961"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Hunan Provincial Grant for Innovative Province Construction","award":["2019SK4012"],"award-info":[{"award-number":["2019SK4012"]}]},{"DOI":"10.13039\/501100004735","name":"Hunan Provincial Natural Science Foundation of China","doi-asserted-by":"crossref","award":["2020JJ5993"],"award-info":[{"award-number":["2020JJ5993"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,5,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Meiosis is pivotal to gametogenesis and fertility. Meiotic recombination is a mandatory process that ensures faithful chromosome segregation and generates genetic diversity in gametes. Non-obstructive azoospermia (NOA) caused by meiotic arrest is a common cause of male infertility and has many genetic origins, including chromosome abnormalities, Y chromosome microdeletion and monogenic mutations. However, the genetic causes of the majority of NOA cases remain to be elucidated. Here, we report our findings of three Shortage in chiasmata 1 (SHOC1) bi-allelic variants in three NOA patients, of which two are homozygous for the same loss-of-function variant (c.231_232del: p.L78Sfs*9), and one is heterozygous for two different missense variants (c.1978G&amp;gt;A: p.A660T; c.4274G&amp;gt;A: p.R1425H). Testicular biopsy of one patient revealed impairment of spermatocyte maturation. Both germ-cell-specific and general Shoc1-knockout mice exhibited similar male infertility phenotypes. Subsequent analysis revealed comprehensive defects in homologous pairing and synapsis along with abnormal expression of DMC1, RAD51 and RPA2 in Shoc1-defective spermatocyte spreads. These findings imply that SHOC1 may have a presynaptic function during meiotic recombination apart from its previously identified role in crossover formation. Overall, our results provide strong evidence for the clinical relevance of SHOC1 mutations in patients with NOA and contribute to a deeper mechanistic understanding of the role of SHOC1 during meiotic recombination.<\/jats:p>","DOI":"10.1093\/molehr\/gaac015","type":"journal-article","created":{"date-parts":[[2022,4,26]],"date-time":"2022-04-26T12:07:24Z","timestamp":1650974844000},"source":"Crossref","is-referenced-by-count":22,"title":["Bi-allelic variants in <i>SHOC1<\/i> cause non-obstructive azoospermia with meiosis arrest in humans and mice"],"prefix":"10.1093","volume":"28","author":[{"given":"Weili","family":"Wang","sequence":"first","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University , Changsha, China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya , Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lanlan","family":"Meng","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University , Changsha, China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya , Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaxin","family":"He","sequence":"additional","affiliation":[{"name":"College of Life Sciences, Hunan Normal University , Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilan","family":"Su","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University , Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Li","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University , Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Tan","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University , Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xilin","family":"Xu","sequence":"additional","affiliation":[{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya , Changsha, China"},{"name":"College of Life Sciences, Hunan Normal University , Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongchuan","family":"Nie","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University , Changsha, China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya , Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University , Changsha, China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya , Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Du","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University , Changsha, China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya , Changsha, China"},{"name":"NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Central South University , Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangxiu","family":"Lu","sequence":"additional","affiliation":[{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya , Changsha, China"},{"name":"College of Life Sciences, Hunan Normal University , Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengcheng","family":"Luo","sequence":"additional","affiliation":[{"name":"Hubei Provincial Key Laboratory of Developmentally Originated Disease, School of Basic Medical Sciences, Wuhan University , Wuhan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3877-2546","authenticated-orcid":false,"given":"Ge","family":"Lin","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University , Changsha, China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya , Changsha, China"},{"name":"College of Life Sciences, Hunan Normal University , Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5682-8948","authenticated-orcid":false,"given":"Chaofeng","family":"Tu","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University , Changsha, China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya , Changsha, China"},{"name":"NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Central South University , Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8359-4654","authenticated-orcid":false,"given":"Yue-Qiu","family":"Tan","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University , Changsha, China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya , Changsha, China"},{"name":"College of Life Sciences, Hunan Normal University , Changsha, China"},{"name":"NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Central South University , Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,4,29]]},"reference":[{"key":"2022053118100666900_gaac015-B1","doi-asserted-by":"crossref","first-page":"2365","DOI":"10.1093\/nar\/gky1273","article-title":"The conserved XPF:ERCC1-like Zip2:Spo16 complex controls meiotic crossover formation through structure-specific DNA binding","volume":"47","author":"Arora","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"2022053118100666900_gaac015-B2","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/75556","article-title":"Gene ontology: tool for the unification of biology. 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Med"},{"key":"2022053118100666900_gaac015-B42","doi-asserted-by":"crossref","first-page":"562","DOI":"10.4103\/aja.aja_86_20","article-title":"Crossover patterns under meiotic chromosome program","volume":"23","author":"Wang","year":"2021","journal-title":"Asian J Androl"},{"key":"2022053118100666900_gaac015-B43","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmedgenet-2019-106031","article-title":"Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations","volume":"56","author":"Wang","year":"2019","journal-title":"J Med Genet"},{"key":"2022053118100666900_gaac015-B44","doi-asserted-by":"crossref","first-page":"e28218","DOI":"10.4161\/spmg.28218","article-title":"Review of 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