• PMID: 8205615
• Gene Name: NR5A1
• Condition: Sex determination
• Association: The study proposes that SF-1 regulates MIS in vivo and participates directly in the process of mammalian sex determination.
• Sex: Male, female
• Infertility type: Male infertility, Female infertility
• Other associated phenotypes: Sex determination

Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade

Shen WH, Moore CC, Ikeda Y, Parker KL, Ingraham HA.

Normal male sex differentiation requires that Sertoli cells in the embryonic testes produce müllerian inhibiting substance (MIS), a TGF beta-like hormone that causes müllerian duct regression. In primary Sertoli cells, the orphan nuclear receptor, steroidogenic factor 1 (SF-1), regulates the MIS gene by binding to a conserved upstream regulatory element. In heterologous (HeLa) cells, MIS gene activation by SF-1 requires removal of the SF-1 ligand-binding domain, implicating a Sertoli cell-specific ligand or cofactor. Finally, the sexually dimorphic expression of SF-1 during development coincides with MIS expression and müllerian duct regression. We propose that SF-1 regulates MIS in vivo and participates directly in the process of mammalian sex determination. FAU - Shen, W H AU - Shen WH AD - Department of Obstetrics, Gynocology, and Reproductive Sciences, University of California, San Francisco 94143-0556. FAU - Moore, C C AU - Moore CC FAU - Ikeda, Y AU - Ikeda Y FAU - Parker, K L AU - Parker KL