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

Nature volume 372, pages 525–530 (1994)Cite this article

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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Author information

Author notes

  1. Marina A. Dominguez-Steglich, Sahar Mansour, Ian D. Young and J. David Brook: Centre for Medical Genetics, City Hospital, Queens Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK

  2. Marina A. Dominguez-Steglich and J. David Brook: Department of Genetics, Queens Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK

  3. Jean Weissenbach: Laboratoire Généthon, 1 rue de I'lnternationale, Evry 91002, France

  4. Sahar Mansour: Institute of Child Health, Guilford Street, London WC1N 1EH, UK

Authors and Affiliations

  1. Department of Genetics, University of Cambridge, Downing Street, Cambridge, CB2 3EH, UK

    Jamie W. Foster, Marina A. Dominguez-Steglich, Silvana Guioli, Cheni Kwok, Polly A. Weller, Milena Stevanović, Jean Weissenbach, Sahar Mansour, Ian D. Young, Peter N. Goodfellow, J. David Brook & Alan J. Schafer

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  1. Jamie W. Foster
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  2. Marina A. Dominguez-Steglich
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Foster, J., Dominguez-Steglich, M., Guioli, S. et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372, 525–530 (1994). https://doi.org/10.1038/372525a0

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