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PMID: 8782821 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Nature genetics ·Vol. 14 ·No. 1 ·1996-09-00 ·Pages 62-8

Morais da Silva S, Hacker A, Harley V, Goodfellow P, Swain A, Lovell-Badge R

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.

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,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,metabolism Transcription Factors/genetics,physiology X Chromosome

Chemicals

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

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Morais da Silva S

Division of Developmental Genetics, MRC National Institute for Medical Research, Mill Hill, London, UK.

Hacker A

Harley V

Goodfellow P

Swain A

Lovell-Badge R

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng0996-62

Published

1996-09-00

Pages

62-8

Language

English

Region

United States

NLM ID

9216904

Subset

Grants

Wellcome Trust · United Kingdom

External Links

PubMed source DOI: 10.1038/ng0996-62 View journal details

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

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