Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds

Nat Genet. 1996 Sep;14(1):62-8. doi: 10.1038/ng0996-62.


Heterozygous mutations in SOX9 lead to a human dwarfism syndrome, Campomelic dysplasia. Consistent with a role in sex determination, we find that Sox9 expression closely follows differentiation of Sertoli cells in the mouse testis, in experimental sex reversal when fetal ovaries are grafted to adult kidneys and in the chick where there is no evidence for a Sry gene. Our results imply that Sox9 plays an essential role in sex determination, possibly immediately downstream of Sry in mammals, and that it functions as a critical Sertoli cell differentiation factor, perhaps in all vertebrates.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Nucleus / metabolism
  • Chickens
  • DNA Primers
  • DNA-Binding Proteins / genetics
  • Female
  • Gene Expression
  • High Mobility Group Proteins / genetics*
  • High Mobility Group Proteins / physiology
  • Male
  • Mammals
  • Mice
  • Molecular Sequence Data
  • Nuclear Proteins*
  • SOX9 Transcription Factor
  • Sertoli Cells / metabolism
  • Sex Differentiation / genetics*
  • Sex-Determining Region Y Protein
  • Testis / growth & development*
  • Testis / metabolism
  • Transcription Factors / genetics*
  • Transcription Factors / physiology
  • X Chromosome


  • DNA Primers
  • DNA-Binding Proteins
  • High Mobility Group Proteins
  • Nuclear Proteins
  • SOX9 Transcription Factor
  • SOX9 protein, human
  • Sex-Determining Region Y Protein
  • Sox9 protein, mouse
  • Sry protein, mouse
  • Transcription Factors