{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T16:02:41Z","timestamp":1791388961990,"version":"4.3.3"},"reference-count":26,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2012,6,7]],"date-time":"2012-06-07T00:00:00Z","timestamp":1339027200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Differentiation of the bipotential gonad into testis is initiated by the Y chromosome\u2010linked gene <jats:italic>SRY<\/jats:italic> (Sex\u2010determining Region Y) through upregulation of its autosomal direct target gene <jats:italic>SOX9<\/jats:italic> (<jats:italic>Sry<\/jats:italic>\u2010related HMG box\u2010containing gene 9). Sequence and chromosome homology studies have shown that <jats:italic>SRY<\/jats:italic> most probably evolved from <jats:italic>SOX3<\/jats:italic>, which in humans is located at Xq27.1. Mutations causing <jats:italic>SOX3<\/jats:italic> loss\u2010of\u2010function do not affect the sex determination in mice or humans. However, transgenic mouse studies have shown that ectopic expression of <jats:italic>Sox3<\/jats:italic> in the bipotential gonad results in upregulation of <jats:italic>Sox9<\/jats:italic>, resulting in testicular induction and XX male sex reversal. However, the mechanism by which these rearrangements cause sex reversal and the frequency with which they are associated with disorders of sex development remains unclear. Rearrangements of the <jats:italic>SOX3<\/jats:italic> locus were identified recently in three cases of human XX male sex reversal. We report on a case of XX male sex reversal associated with a novel de novo duplication of the <jats:italic>SOX3<\/jats:italic> gene. These data provide additional evidence that <jats:italic>SOX3<\/jats:italic> gain\u2010of\u2010function in the XX bipotential gonad causes XX male sex reversal and further support the hypothesis that <jats:italic>SOX3<\/jats:italic> is the evolutionary antecedent of <jats:italic>SRY<\/jats:italic>. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35390","type":"journal-article","created":{"date-parts":[[2012,6,7]],"date-time":"2012-06-07T20:18:46Z","timestamp":1339100326000},"page":"1759-1764","source":"Crossref","is-referenced-by-count":77,"title":["XX male sex reversal with genital abnormalities associated with a de novo <i>SOX3<\/i> gene 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