title: Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds.
abstract: 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.
authors.affiliation: Division of Developmental Genetics, MRC National Institute for Medical Research, Mill Hill, London, UK.
authors.forename: S
authors.initials: S
authors.lastname: Morais da Silva
authors.forename: A
authors.initials: A
authors.lastname: Hacker
authors.forename: V
authors.initials: V
authors.lastname: Harley
authors.forename: P
authors.initials: P
authors.lastname: Goodfellow
authors.forename: A
authors.initials: A
authors.lastname: Swain
authors.forename: R
authors.initials: R
authors.lastname: Lovell-Badge
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002467:Cell Nucleus / Q000378:metabolism; D002645:Chickens; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D015870:Gene Expression; D006609:High Mobility Group Proteins / Q000235:genetics* / Q000502:physiology; D008297:Male; D008322:Mammals; D051379:Mice; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D055758:SOX9 Transcription Factor; D012708:Sertoli Cells / Q000378:metabolism; D012733:Sex Differentiation / Q000235:genetics*; D051876:Sex-Determining Region Y Protein; D013737:Testis / Q000254:growth & development* / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics* / Q000502:physiology; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; D009687:Nuclear Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D051876:Sex-Determining Region Y Protein; C527933:Sox9 protein, mouse; C497746:Sry protein, mouse; D014157:Transcription Factors