Identification of Novel Targets of SOX9 in Mammalian Testis Development

This thesis sought to identify novel genes involved in embryonic testis development. In chromosomally male (or XY) individuals, disruption to genes required for testis formation can result in “Disorders of Sex Development” (DSDs) where ambiguous genitalia or female ovaries arise. However, since the underlying genetic cause remains unknown in about 50% of XY DSDs, clinical management for these patients is compromised. To discover novel testis genes, functional activities of novel candidate factors were tested in human testicular cells. This approach revealed a gene which regulates testicular cell growth, thus providing a new target for genetic screening in undiagnosed DSD cases.