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Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the <jats:italic>SOX9<\/jats:italic> gene (RevSex) and duplication of the <jats:italic>SOX9<\/jats:italic> gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring <jats:italic>SOX9<\/jats:italic> and a region orthologous to the human RevSex (CanRevSex), which was located by <jats:italic>in silico<\/jats:italic> analysis downstream of <jats:italic>SOX9<\/jats:italic>. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of <jats:italic>SOX9<\/jats:italic> and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of <jats:italic>SOX9<\/jats:italic> was observed. Our extensive studies have excluded duplication of <jats:italic>SOX9<\/jats:italic> as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1.<\/jats:p>","DOI":"10.1038\/srep14696","type":"journal-article","created":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T09:17:35Z","timestamp":1443691055000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Copy number variation in the region harboring SOX9 gene in dogs with testicular\/ovotesticular disorder of sex development (78,XX; SRY-negative)"],"prefix":"10.1038","volume":"5","author":[{"given":"Malgorzata","family":"Marcinkowska-Swojak","sequence":"first","affiliation":[]},{"given":"Izabela","family":"Szczerbal","sequence":"additional","affiliation":[]},{"given":"Hubert","family":"Pausch","sequence":"additional","affiliation":[]},{"given":"Joanna","family":"Nowacka-Woszuk","sequence":"additional","affiliation":[]},{"given":"Krzysztof","family":"Flisikowski","sequence":"additional","affiliation":[]},{"given":"Stanislaw","family":"Dzimira","sequence":"additional","affiliation":[]},{"given":"Wojciech","family":"Nizanski","sequence":"additional","affiliation":[]},{"given":"Rita","family":"Payan-Carreira","sequence":"additional","affiliation":[]},{"given":"Ruedi","family":"Fries","sequence":"additional","affiliation":[]},{"given":"Piotr","family":"Kozlowski","sequence":"additional","affiliation":[]},{"given":"Marek","family":"Switonski","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2015,10,1]]},"reference":[{"key":"BFsrep14696_CR1","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1159\/000332740","volume":"6","author":"VN Meyers-Wallen","year":"2012","unstructured":"Meyers-Wallen, V. 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