{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T12:03:55Z","timestamp":1768478635325,"version":"3.49.0"},"reference-count":32,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,12,27]],"date-time":"2019-12-27T00:00:00Z","timestamp":1577404800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004920","name":"Royan Institute","doi-asserted-by":"publisher","award":["94000148"],"award-info":[{"award-number":["94000148"]}],"id":[{"id":"10.13039\/501100004920","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molecular Reproduction Devel"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>SEPT12<\/jats:italic> is a testis\u2010specific gene involved in the terminal differentiation of male germ cells. SEPT12 protein is required for sperm head\u2010tail formation and acts as a fundamental constituent of sperm tail annulus. In this study, we screened genetic variations in exons 5, 6, 7 of the <jats:italic>SEPT12<\/jats:italic> and assessed the annulus status in teratozoospermic, globozoospermic, and patients with immotile short tail sperm.<\/jats:p><jats:p>DNA sequencing was performed for 90 teratozoospermic and 30 normozoospermic individuals. Immunocytochemistry, transmission electron microscopy and western blotting were conducted to evaluate annulus status and the expression level of SEPT12 in patients with a distinct exonic variation (c.474G&gt;A), respectively.<\/jats:p><jats:p>Five polymorphisms identified within the desired regions of the <jats:italic>SEPT12<\/jats:italic>, among them c.474G&gt;A had the potential to induce aberrant splicing results in the expression of a truncated protein. The annulus was detected in most of the spermatozoa from teratozoospermic and normozoospermic men with c.474G&gt;A. In contrast, in the patient with short tail sperm defect carrying c.474G&gt;A, 99% of spermatozoa were devoid of the annulus. Based on our findings there would be no association between exons 5, 6, 7 polymorphisms of the <jats:italic>SEPT12<\/jats:italic> gene and the occurrence of mentioned disease but c.474G&gt;A would be a predisposing factor in male infertility.<\/jats:p>","DOI":"10.1002\/mrd.23310","type":"journal-article","created":{"date-parts":[[2019,12,27]],"date-time":"2019-12-27T11:19:40Z","timestamp":1577445580000},"page":"251-259","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Single\u2010nucleotide polymorphism c.474G&gt;A in the <i>SEPT12<\/i> gene is a predisposing factor in male infertility"],"prefix":"10.1002","volume":"87","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6681-6633","authenticated-orcid":false,"given":"Alemeh","family":"Rafaee","sequence":"first","affiliation":[{"name":"Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine ACECR  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9049-8057","authenticated-orcid":false,"given":"Anahita","family":"Mohseni Meybodi","sequence":"additional","affiliation":[{"name":"Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine ACECR  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Parichehreh","family":"Yaghmaei","sequence":"additional","affiliation":[{"name":"Science and Research Branch Islamic Azad University  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seyedeh Hanieh","family":"Hosseini","sequence":"additional","affiliation":[{"name":"Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine ACECR  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9439-268X","authenticated-orcid":false,"given":"Marjan","family":"Sabbaghian","sequence":"additional","affiliation":[{"name":"Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine ACECR  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,12,27]]},"reference":[{"issue":"4","key":"e_1_2_9_2_1","first-page":"1157","article-title":"The research of the relationship between new single nucleotide polymorphism G5508A in the SEPT12 gene and azoospermia","volume":"27","author":"An C.","year":"2016","journal-title":"Biomedical Research"},{"issue":"2","key":"e_1_2_9_3_1","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1242\/jcs.107.2.561","article-title":"Compartmentalization, processing, and redistribution of the plasma membrane protein CE9 on rodent spermatozoa. 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