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

Cell. 1994 Jun 3;77(5):651-61. doi: 10.1016/0092-8674(94)90050-7.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Anti-Mullerian Hormone
  • Base Sequence
  • Binding Sites
  • Cell Nucleus / metabolism
  • DNA / genetics
  • DNA-Binding Proteins / metabolism*
  • Female
  • Fushi Tarazu Transcription Factors
  • Gene Expression Regulation
  • Glycoproteins*
  • Growth Inhibitors / genetics*
  • Homeodomain Proteins
  • Humans
  • Male
  • Mice
  • Molecular Sequence Data
  • Mullerian Ducts / embryology
  • Mullerian Ducts / metabolism
  • Promoter Regions, Genetic
  • Rats
  • Rats, Sprague-Dawley
  • Receptors, Cytoplasmic and Nuclear / metabolism*
  • Sertoli Cells / metabolism
  • Sex Characteristics
  • Sex Differentiation / genetics*
  • Sex Differentiation / physiology*
  • Steroidogenic Factor 1
  • Testicular Hormones / genetics*
  • Testis / embryology
  • Transcription Factors / metabolism*
  • Transcriptional Activation

Substances

  • DNA-Binding Proteins
  • Fushi Tarazu Transcription Factors
  • Glycoproteins
  • Growth Inhibitors
  • Homeodomain Proteins
  • NR5A1 protein, human
  • Receptors, Cytoplasmic and Nuclear
  • Steroidogenic Factor 1
  • Testicular Hormones
  • Transcription Factors
  • steroidogenic factor 1, mouse
  • steroidogenic factor 1, rat
  • Anti-Mullerian Hormone
  • DNA

Associated data

  • GENBANK/U09208