CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL CAUSED BY MUTATIONS IN AN SRY-RELATED GENE

Induction of testis development in mammals requires the presence of th e Y-chromosome gene SRY. This gene must exert its effect by interactin g with other genes in the sex-determination pathway. Cloning of a tran slocation chromosome breakpoint from a sex-reversed patient with campo melic dysplasia, followed by mutation analysis of an adjacent gene, in dicates that SOX9, an SRY-related gene, is involved in both bone forma tion and control of testis development.