A male-specific role for SOX9 in vertebrate sex determination

Kent, Jill, Wheatley, Susan C., Andrews, Jane E., Sinclair, Andrew H. and Koopman, Peter (1996) A male-specific role for SOX9 in vertebrate sex determination. Development, 122 9: 2813-2822.

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Author Kent, Jill
Wheatley, Susan C.
Andrews, Jane E.
Sinclair, Andrew H.
Koopman, Peter
Title A male-specific role for SOX9 in vertebrate sex determination
Journal name Development   Check publisher's open access policy
ISSN 0950-1991
Publication date 1996-09-01
Year available 1996
Sub-type Article (original research)
Open Access Status File (Publisher version)
Volume 122
Issue 9
Start page 2813
End page 2822
Total pages 10
Place of publication Cambridge, United Kingdom
Publisher The Company of Biologists
Language eng
Abstract Mutation analyses of patients with campomelic dysplasia, a bone dysmorphology and XY sex reversal syndrome, indicate that the SRY-related gene SOX9 is involved in both skeletal development and sex determination. To clarify the role SOX9 plays in vertebrate sex determination, we have investigated its expression during gonad development in mouse and chicken embryos. In the mouse, high levels of Sox9 mRNA were found in male (XY) but not female (XX) genital ridges, and were localised to the sex cords of the developing testis. Purified fetal germ cells lacked Sox9 expression, indicating that Sox9 expression is specific to the Sertoli cell lineage. Sex specificity of SOX9 protein expression was confirmed using a polyclonal antiserum. The timing and cell-type specificity of Sox9 expression suggests that Sox9 may be directly regulated by SRY. Male-specific expression of cSOX9 mRNA during the sex determination period was also observed in chicken genital ridges. The conservation of sexually dimorphic expression in two vertebrate classes which have significant differences in their sex determination mechanisms, points to a fundamental role for SOX9 in testis determination in vertebrates. Sox9 expression was maintained in the mouse testis during fetal and adult life, but no expression was seen at any stage by in situ hybridisation in the developing ovary. Male-specific expression was also observed in the cells surrounding the Mullerian ducts and in the epididymis, and expression in both sexes was detected in the developing collecting ducts of the metanephric kidney. These results suggest that SOX9 may have a wider role in the development of the genitourinary system.
Keyword Sox9
Sex determination
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
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