{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T21:05:09Z","timestamp":1789247109608,"version":"build-2803163510"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,10]],"date-time":"2020-02-10T00:00:00Z","timestamp":1581292800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Severe oligozoospermia (SO) is an important cause of male infertility. Its etiology and pathogenesis are associated with genetic abnormalities; however, the genetic causes of the majority of idiopathic human SO remain unclear. Here, we report a homozygous splice\u2010site mutation in\n                    <jats:italic>M1AP<\/jats:italic>\n                    (meiosis 1 associated protein; NM_138804, c.1435\u20101G&gt;A) observed in a patient with SO from a consanguineous Han Chinese family. His parents and fertile brother were heterozygous for the mutation. The splice variant led to a lack of M1AP protein in the patient's spermatozoa. Ultrastructural and immunostaining analyses of patient's spermatozoa showed highly aberrant swollen mitochondrial sheaths with normal axonemal structures. Subsequent mutation screening identified three additional heterozygous\n                    <jats:italic>M1AP<\/jats:italic>\n                    variants in 4\/243 subjects with idiopathic SO, but no\n                    <jats:italic>M1AP<\/jats:italic>\n                    variants among 223 fertile subjects. Additionally, a previously study reported that\n                    <jats:italic>M1ap<\/jats:italic>\n                    knock\u2010out mice exhibited SO due to meiotic arrest. Hence, our findings indicate that\n                    <jats:italic>M1AP<\/jats:italic>\n                    mutation might represent novel genetic alteration responsible for human SO.\n                  <\/jats:p>","DOI":"10.1111\/cge.13712","type":"journal-article","created":{"date-parts":[[2020,2,4]],"date-time":"2020-02-04T03:18:56Z","timestamp":1580786336000},"page":"741-746","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["An\n                    <i>M1AP<\/i>\n                    homozygous splice\u2010site mutation associated with severe oligozoospermia in a consanguineous family"],"prefix":"10.1111","volume":"97","author":[{"given":"Chaofeng","family":"Tu","sequence":"first","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering School of Basic Medical Science, Central South University  Changsha China"},{"name":"Reproductive and Genetic Hospital of CITIC\u2010Xiangya  Changsha China"},{"name":"Key Lab of MOE for Development Biology and Protein Chemistry, The Center for Heart Development, College of Life Sciences Hunan Normal University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Wang","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering School of Basic Medical Science, Central South University  Changsha China"},{"name":"Reproductive and Genetic Hospital of CITIC\u2010Xiangya  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":"Reproductive and Genetic Hospital of CITIC\u2010Xiangya  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lanlan","family":"Meng","sequence":"additional","affiliation":[{"name":"Reproductive and Genetic Hospital of CITIC\u2010Xiangya  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weili","family":"Wang","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":"Dongyan","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":"Huan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Reproductive and Genetic Hospital of CITIC\u2010Xiangya  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangxiu","family":"Lu","sequence":"additional","affiliation":[{"name":"Reproductive and Genetic Hospital of CITIC\u2010Xiangya  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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":"Reproductive and Genetic Hospital of CITIC\u2010Xiangya  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8359-4654","authenticated-orcid":false,"given":"Yue\u2010Qiu","family":"Tan","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering School of Basic Medical Science, Central South University  Changsha China"},{"name":"Reproductive and Genetic Hospital of CITIC\u2010Xiangya  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":"Reproductive and Genetic Hospital of CITIC\u2010Xiangya  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(96)08341-9"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12958-015-0032-1"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmp048"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.4161\/spmg.28218"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2013.09.026"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl417"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx440"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0015-7"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.f.1895"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2017.07.067"},{"key":"e_1_2_8_12_1","unstructured":"WyrwollMJ TemelSG NagirnajaL et al. Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility. bioRxiv 2019 803346."},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106031"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.130"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.20907"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1095\/biolreprod.111.098673"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dez022"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.8.2865-2873.2000"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrd.22536"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13712","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13712","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13712","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13712","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T22:26:41Z","timestamp":1694039201000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13712"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,10]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1111\/cge.13712"],"URL":"https:\/\/doi.org\/10.1111\/cge.13712","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13712\/v1\/review3","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13712\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13712\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13712\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13712\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13712\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13712\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13712\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,10]]},"assertion":[{"value":"2019-12-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}