WGS for dogs with disorders of sex development

Disorders of sex development (DSDs) are congenital malformations defined as discrepancy between sex chromosomes and gonadal or phenotypical sex. Among different types of DSD, the XX testicular or ovotesticular DSD (SRY-negative) is quite frequently observed in chromosomal female dogs of different breeds, while monogenic DSD in male dogs are not so frequent. In this study we applied whole genome sequencing (WGS) in searching for causative mutations (nucleotide substitutions, small insertion-deletions or structural variants) in DSD animals of three breeds of dogs. Also control dogs with a normal sex development representing the same breeds were included.