Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

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.

Your institute does not have access to this article

Relevant articles

Open Access articles citing this article.

Access options

Buy article

Get time limited or full article access on ReadCube.

$32.00

Buy

All prices are NET prices.

References

  1. Sinclair, A. H. et al. Nature 346, 240–244 (1990).

    ADS  CAS  Article  Google Scholar 

  2. Koopman, P., Gubbay, J., Vivian, N., Goodfellow, P. & Lovell-Badge, R. Nature 351, 117–121 (1991).

    ADS  CAS  Article  Google Scholar 

  3. Goodfellow, P. N. & Lovell-Badge, R. A. Rev. Genet. 27, 71–92 (1993).

    CAS  Article  Google Scholar 

  4. Bernstein, R. et al. J. med. Genet. 17, 291–300 (1980).

    CAS  Article  Google Scholar 

  5. Pelletier, J. et al. Nature 353, 431–434 (1991).

    ADS  CAS  Article  Google Scholar 

  6. Bennett, C. P. et al. J. med. Genet. 30, 518–520 (1993).

    CAS  Article  Google Scholar 

  7. Wilkie, A. O. M. et al. Am. J. med. Genet. 46, 597–600 (1993).

    CAS  Article  Google Scholar 

  8. Bardoni, B. et al. Nature Genet. 7, 497–501 (1994).

    CAS  Article  Google Scholar 

  9. Luo, X., Ikeda, Y. & Parker, K. L. Cell 77, 481–490 (1994).

    CAS  Article  Google Scholar 

  10. Tommerup, N. et al. Nature Genet. 4, 170–174 (1993).

    CAS  Article  Google Scholar 

  11. McKusick, V. A. Mendelian Inheritance in Man (The Johns Hopkins Press, Baltimore, 1992).

    Google Scholar 

  12. Young, I. D., Zuccollo, J. M., Maltby, E. L. & Broderick, N. J. J. med. Genet. 29, 251–252 (1992).

    CAS  Article  Google Scholar 

  13. Houston, C. S. et al. Am. J. med. Genet. 15, 3–28 (1983).

    CAS  Article  Google Scholar 

  14. Cremin, B. J., Orsmond, G. & Beighton, P. Lancet i, 488–489 (1973).

    Article  Google Scholar 

  15. Maraia, R., Saal, H. M. & Wangsa, D. Clin. Genet. 39, 401–408 (1991).

    CAS  Article  Google Scholar 

  16. Walter, M. A. & Goodfellow, P. N. Trends Genet. 9, 352–356 (1993).

    CAS  Article  Google Scholar 

  17. Walter, M. A., Spillet, D. J., Thomas, P., Weissenbach, J. & Goodfellow, P. N. Nature Genet. 7, 22–28 (1994).

    CAS  Article  Google Scholar 

  18. Lehrach, H. et al. in Genome Analysis 1: Genetic and Physical Mapping (eds Davies, K. E. & Tilghman, S. H.) 39–81(Cold Spring Harbor Laboratory Press, New York, 1990).

    Google Scholar 

  19. Cohen, D., Chumakov I. & Weissenbach, J. Nature 366, 698–701 (1993).

    ADS  CAS  Article  Google Scholar 

  20. Stevanovic, M., Lovell-Badge, R., Collignon, J. & Goodfellow, P. N. Hum. molec. Genet. 2, 2013–2018 (1993).

    CAS  Article  Google Scholar 

  21. Wright, E. M., Snopek, B. & Koopman, P. Nucleic Acids Res. 21, 744 (1993).

    CAS  Article  Google Scholar 

  22. Farr, C. J. et al. Mamm. Genome 4, 577–584 (1993).

    CAS  Article  Google Scholar 

  23. Schilham, M. W., van Eijk, M., van de Wetering, M. & Clevers, H. C. Nucleic Acids Res. 21, 2009 (1993).

    CAS  Article  Google Scholar 

  24. Mitchell, P. J. & Tjian, R. Science 245, 371–378 (1989).

    ADS  CAS  Article  Google Scholar 

  25. Hoefnagel, D., Wurster-Hill, D. H., Dupree, W. B., Benirschke, K. & Fuld, G. L. Clin. Genet. 13, 489–499 (1978).

    CAS  Article  Google Scholar 

  26. Dillon, N. & Grosveld, F. Curr. Opin. Genet. Dev. 5, 260–264 (1994).

    Article  Google Scholar 

  27. Capel, B. et al. Nature Genet. 5, 301–307 (1993).

    CAS  Article  Google Scholar 

  28. Tommerup, N. J. med. Genet. 30, 713–727 (1993).

    CAS  Article  Google Scholar 

  29. Mansour, S. thesis, Univ. London (1994).

  30. Bianchine, J. W., Risemberg, H. M., Kanderian, S. S. & Harrison, H. E. Lancet i, 1017–1018 (1971).

    Article  Google Scholar 

  31. Thurmon, T. F., DeFraites, B. S. & Anderson, E. E. J. Pediatr. 83, 841–843 (1973).

    CAS  Article  Google Scholar 

  32. Lynch, S. A., Gaunt, M. L. & Minford, A. M. J. med. Genet. 30, 683–686 (1993).

    CAS  Article  Google Scholar 

  33. Parkhurst, S. M. & Meneely, P. M. Science 264, 924–932 (1994).

    ADS  CAS  Article  Google Scholar 

  34. Bridge, J. et al. Am. J. med. Genet. 21, 225–229 (1985).

    CAS  Article  Google Scholar 

  35. Harley, V. R. et al. Science 255, 453–456 (1992).

    ADS  CAS  Article  Google Scholar 

  36. Denny, P., Swift, S., Connor, F. & Ashworth, A. EMBO J. 11, 3705–3712 (1992).

    CAS  Article  Google Scholar 

  37. van de Wetering, M., Oosterwegel, M., van Norren, K. & Clevers, H. EMBO J. 12, 3847–3854 (1993).

    CAS  Article  Google Scholar 

  38. Lenzini, E. et al. Ann. Genet. 31, 175–180 (1988).

    CAS  PubMed  Google Scholar 

  39. Foster, J. W. & Graves, J. A. Proc. natn. Acad. Sci. U.S.A. 91, 1927–1931 (1994).

    ADS  CAS  Article  Google Scholar 

  40. Buehr, M., Gu, S. & McLaren, A. Development 117, 273–281 (1993).

    CAS  PubMed  Google Scholar 

  41. Wheater, P. R., Burkitt, H. G. & Daniels, V. G. Functional Histology (Churchill Livingstone, Edinburgh, 1979).

    Google Scholar 

  42. Boehnke, M., Lange, K. & Cox, D. R. Am. J. hum. Genet. 49, 1174–1188 (1991).

    CAS  PubMed  PubMed Central  Google Scholar 

  43. Riley, J. et al. Nucleic Acids Res. 18, 2887–2890 (1990).

    CAS  Article  Google Scholar 

  44. Black, D. M., Nlcolai, H., Borrow, J. & Solomon, E. Am. J. hum. Genet. 52, 702–710 (1993).

    CAS  PubMed  PubMed Central  Google Scholar 

Download references

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

Authors
  1. Jamie W. Foster
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Marina A. Dominguez-Steglich
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Silvana Guioli
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Cheni Kwok
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Polly A. Weller
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Milena Stevanović
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Jean Weissenbach
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Sahar Mansour
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Ian D. Young
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Peter N. Goodfellow
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. J. David Brook
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Alan J. Schafer
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and Permissions

About this article

Cite this article

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

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/372525a0

Further reading

Comments

By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing