{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:44:54Z","timestamp":1791999894185,"version":"4.4.0"},"reference-count":22,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,15]],"date-time":"2020-05-15T00:00:00Z","timestamp":1589500800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001738","name":"Ministry of Science, Technology and Space","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001738","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Ubiquitin\u2010Specific Peptidase 26 (<jats:italic>USP26<\/jats:italic>), located on the X chromosome, encodes a deubiquitinating enzyme expressed mainly in testis, where it regulates protein turnover during spermatogenesis and modulates the ubiquitination levels of the Androgen Receptor (AR), and as a consequence, affects AR signaling.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The patient was thoroughly characterized clinically. He was genetically tested by chromosome analysis and whole exome sequencing\u00a0(WES).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient was diagnosed with Sertoli cell\u2010only syndrome pattern (SCOS). The WES analysis revealed only the variation in <jats:italic>USP26<\/jats:italic>: causing p.P469S in a highly evolutionary conserved amino acid as the possible cause for SCOS<jats:italic>.<\/jats:italic> The literature search identified 34 single variations and 14 clusters of variations in <jats:italic>USP26<\/jats:italic> that were associated with male infertility. Only one of the 22 variations and of one cluster of three mutations tested for ubiquitination activity was found as damaging. Only one out of six variations tested for effect on AR function was found as damaging. Thus, the association of USP26 with male fertility was questioned.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The finding in our patient and the discussion on the reviewed literature support a possible role for <jats:italic>USP26<\/jats:italic> in male fertility.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1258","type":"journal-article","created":{"date-parts":[[2020,5,15]],"date-time":"2020-05-15T08:48:30Z","timestamp":1589532510000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Novel mutation in <i>USP26<\/i> associated with azoospermia in a Sertoli cell\u2010only syndrome patient"],"prefix":"10.1002","volume":"8","author":[{"given":"Maram","family":"Arafat","sequence":"first","affiliation":[{"name":"The Shraga Segal Department of Microbiology, Immunology &amp; Genetics Faculty of Health Sciences Ben\u2010Gurion University of the Negev Beer\u2010Sheva Israel"},{"name":"The National Institute for Biotechnology in the Negev Ben\u2010Gurion University of the Negev Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atif","family":"Zeadna","sequence":"additional","affiliation":[{"name":"Fertility and IVF Unit Department of Obstetrics and Gynecology Soroka University Medical Center Faculty of Health Sciences Ben\u2010Gurion University of the Negev Beer\u2010Sheva Israel"},{"name":"The Center of Advanced Research and Education in Reproduction (CARER) Faculty of Health Sciences Ben\u2010Gurion University of the Negev Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliahu","family":"Levitas","sequence":"additional","affiliation":[{"name":"Fertility and IVF Unit Department of Obstetrics and Gynecology Soroka University Medical Center Faculty of Health Sciences Ben\u2010Gurion University of the Negev Beer\u2010Sheva Israel"},{"name":"The Center of Advanced Research and Education in Reproduction (CARER) Faculty of Health Sciences Ben\u2010Gurion University of the Negev Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris","family":"Har Vardi","sequence":"additional","affiliation":[{"name":"Fertility and IVF Unit Department of Obstetrics and Gynecology Soroka University Medical Center Faculty of Health Sciences Ben\u2010Gurion University of the Negev Beer\u2010Sheva Israel"},{"name":"The Center of Advanced Research and Education in Reproduction (CARER) Faculty of Health Sciences Ben\u2010Gurion University of the Negev Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benzion","family":"Samueli","sequence":"additional","affiliation":[{"name":"Department of Pathology Soroka University Medical Center Faculty of Health Sciences Ben\u2010Gurion University of the Negev Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Shaco\u2010Levy","sequence":"additional","affiliation":[{"name":"Department of Pathology Soroka University Medical Center Faculty of Health Sciences Ben\u2010Gurion University of the Negev Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salam","family":"Dabsan","sequence":"additional","affiliation":[{"name":"The Shraga Segal Department of Microbiology, Immunology &amp; 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