Early steps in mammalian sex determination

Abstract

Since the cloning of the Y-located testis-determining factor, sex determining region Y (SRY), several other genes have been implicated in the process of mammalian sex determination. Mutations of an SRY-related gene, SRY-related high-mobility group box 9 (SOX9), result in autosomal sex reversal and campomelic dysplasia. The genes Steroidogenic factor 1 (SF1) and Wilms' tumour 1 (WT1) are required for early gonadal development as well as for the formation of adrenals and kidneys respectively. The gene responsible for adrenal hypoplasia congenita, DAX1, is a candidate for the X-linked dosage sensitive sex reversal gene (DSS).