title: Genetic regulation of mammalian gonad development.
abstract: Sex-specific gonadal development starts with formation of the bipotential gonad, which then differentiates into either a mature testis or an ovary. This process is dependent on activation of either the testis-specific or the ovary-specific pathway while the opposite pathway is continuously repressed. A network of transcription factors tightly regulates initiation and maintenance of these distinct pathways; disruption of these networks can lead to disorders of sex development in humans and male-to-female or female-to-male sex reversal in mice. Sry is the Y-linked master switch that is both required and sufficient to drive the testis-determining pathway. Another key component of the testis pathway is Sox9, which acts immediately downstream of Sry. In contrast to the testis pathway, no single sex-determining factor has been identified in the ovary pathway; however, multiple genes, such as Foxl2, Rspo1, Ctnnb1, and Wnt4, seem to work synergistically and in parallel to ensure proper ovary development. Our understanding of the regulatory networks that underpin testis and ovary development has grown substantially over the past two decades.
authors.affiliation: Murdoch Childrens Research Institute, Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, 50 Flemington Road, Melbourne, VIC 3052, Australia.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Eggers
authors.affiliation: Murdoch Childrens Research Institute, Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, 50 Flemington Road, Melbourne, VIC 3052, Australia.
authors.forename: Thomas
authors.initials: T
authors.lastname: Ohnesorg
authors.affiliation: Murdoch Childrens Research Institute, Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, 50 Flemington Road, Melbourne, VIC 3052, Australia.
authors.forename: Andrew
authors.initials: A
authors.lastname: Sinclair
mesh_terms: D000818:Animals; D005260:Female; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D008297:Male; D035683:MicroRNAs / Q000235:genetics*; D010053:Ovary / Q000196:embryology*; D019849:Sex Determination Processes / Q000235:genetics*; D013737:Testis / Q000196:embryology*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D035683:MicroRNAs; D014157:Transcription Factors