{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T02:15:57Z","timestamp":1740104157158,"version":"3.37.3"},"reference-count":30,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2018,9,7]],"date-time":"2018-09-07T00:00:00Z","timestamp":1536278400000},"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":["91000716"],"award-info":[{"award-number":["91000716"]}],"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":[[2018,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genetic abnormalities have been considered a significant cause of male infertility. Increased expression of SPATA33 during the first wave of spermatogenesis indicates its possible association with the meiotic process. The aim of the current study was to investigate the genetic variations in the <jats:italic>SPATA33<\/jats:italic> gene and its expression in patients with nonobstructive azoospermia (NOA). A total of 100 Iranian NOA men with idiopathic infertility were taken as the case group. The control group comprised 100 fertile men who had at least one child. The presence of nucleotide variations was analyzed in both groups using the standard polymerase chain reaction (PCR) sequencing technique. For mRNA and protein expression studies, testicular biopsy specimens from 27 patients were subdivided into three groups: nine obstructive azoospermic patients with hypospermatogenesis as control; nine maturation arrest (MA) and nine Sertoli cell\u2010only syndromes (SCOS) as case groups. The expression of SPATA33 at both mRNA and protein levels was compared among these three groups using the reverse transcription PCR technique, the realtime\u2010PCR technique, and immunohistochemistry. Mutation analysis of the \n<jats:italic>SPATA33<\/jats:italic> gene revealed five nucleotide changes among the population studied. All but one showed no significant differences between the groups. The genotype distributions of rs112536073A\u2009&gt;\u2009T in the transcription factor binding site region with heterozygote and homozygote genotypes were significantly different (\n<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05) between the two groups. More heterozygotes of this polymorphism were observed in patients, whereas more homozygotes were detected in controls. Accordingly, the current study illustrated that alterations in \n<jats:italic>SPATA33<\/jats:italic> gene, at least those found in this study, may not impair spermatogenesis in\u00a0patients with NOA. Reduction of gene expression at the level of mRNA in patients with SCOS can be interpreted by the absence of germ cells in the testicular tissue of these patients.<\/jats:p>","DOI":"10.1002\/mrd.23051","type":"journal-article","created":{"date-parts":[[2018,8,11]],"date-time":"2018-08-11T06:55:25Z","timestamp":1533970525000},"page":"760-767","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Gene alterations and expression spectrum of <i>SPATA33<\/i> in nonobstructive azoospermic Iranian men"],"prefix":"10.1002","volume":"85","author":[{"given":"Ladan","family":"Monsef","sequence":"first","affiliation":[{"name":"Department of Basic Science and Advanced Technologies in Biology University of Science and Culture Tehran Iran"},{"name":"Department of Genetics Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Parnaz","family":"Borjian Boroujeni","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":"Mehdi","family":"Totonchi","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":"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"}]},{"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"}]}],"member":"311","published-online":{"date-parts":[[2018,9,7]]},"reference":[{"key":"e_1_2_8_1_2_1","article-title":"The mic male","author":"American Urological Association","year":"2011","journal-title":"AUA Best Practice Statement"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_3_1","DOI":"10.1371\/journal.pone.0067882"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_4_1","DOI":"10.1007\/s12522-016-0234-z"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_5_1","DOI":"10.1086\/521314"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_6_1","DOI":"10.1186\/1477-7827-11-42"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_7_1","DOI":"10.1210\/rp.57.1.103"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_8_1","DOI":"10.1136\/jmg.2007.049650"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_9_1","DOI":"10.1186\/1471-2164-11-401"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_10_1","DOI":"10.1093\/humrep\/deq138"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_11_1","DOI":"10.1530\/REP-15-0261"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_12_1","DOI":"10.1016\/j.urology.2010.10.001"},{"key":"e_1_2_8_1_13_1","first-page":"1197","article-title":"The biology of infertility: Research advances and clinical challenges","volume":"14","author":"Matzuk M. 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