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Nature. 1994 Dec 8;372(6506):525-30.

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.

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  • 1Department of Genetics, University of Cambridge, UK.


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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