Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
JW Foster, MA Dominguez-Steglich, S Guioli, C Kwok… - Nature, 1994 - nature.com
JW Foster, MA Dominguez-Steglich, S Guioli, C Kwok, PA Weller, M Stevanović…
Nature, 1994•nature.comInduction of testis development in mammals requires the presence of the Y-chromosome
gene SPY. 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.
gene SPY. 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.
Abstract
Induction of testis development in mammals requires the presence of the Y-chromosome gene SPY. 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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