Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)
M Marcinkowska-Swojak, I Szczerbal, H Pausch… - Scientific Reports, 2015 - nature.com
Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite
common, its molecular basis is still unclear. Among mutations underlying XX DSD in
mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and
duplication of the SOX9 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 SOX9 and a region orthologous to the human …
common, its molecular basis is still unclear. Among mutations underlying XX DSD in
mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and
duplication of the SOX9 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 SOX9 and a region orthologous to the human …