Campomelic Dysplasia and Autosomal Sex Reversal Caused by Mutations in an SRY-related Gene

Overview

Journal Nature

Specialty Science

Date 1994 Dec 8

PMID 7990924

Citations 422

Authors

J W FOSTER

S Guioli

C Kwok

P A Weller

M Stevanovic

J Weissenbach

S Mansour

I D Young

P N Goodfellow

Affiliations

Soon will be listed here.

Abstract

Induction of testis development in mammals requires the presence of the Y-chromosome gene SRY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development.

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