Genes and Gene Defects Affecting Gonad Development and Primary Sex Determination☆

Abstract

Primary sex determination refers to the developmental processes by which the bipotential gonads develop as either testes or ovaries. Many of the genes involved in testis or ovary determination have been identified either by genetic studies of individuals suffering from disorders of sex development (DSD) or from gene knockout experiments in mice. In this review, we summarize our current knowledge of the major genetic and signaling pathways underlying testis and ovarian development in mammals and discuss how the advent of powerful sequencing and gene editing technologies will affect the future of this important field of sex determination and DSD research.