Article | Published:

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

Naturevolume 372pages525530 (1994) | Download Citation

Subjects

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.

References

  1. 1

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

  2. 2

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

  3. 3

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

  4. 4

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

  5. 5

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

  6. 6

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

  7. 7

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

  8. 8

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

  9. 9

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

  10. 10

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

  11. 11

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

  12. 12

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

  13. 13

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

  14. 14

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

  15. 15

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

  16. 16

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

  17. 17

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

  18. 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).

  19. 19

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

  20. 20

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

  21. 21

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

  22. 22

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

  23. 23

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

  24. 24

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

  25. 25

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

  26. 26

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

  27. 27

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

  28. 28

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

  29. 29

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

  30. 30

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

  31. 31

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

  32. 32

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

  33. 33

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

  34. 34

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

  35. 35

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

  36. 36

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

  37. 37

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

  38. 38

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

  39. 39

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

  40. 40

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

  41. 41

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

  42. 42

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

  43. 43

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

  44. 44

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

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

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. Search for Jamie W. Foster in:

  2. Search for Marina A. Dominguez-Steglich in:

  3. Search for Silvana Guioli in:

  4. Search for Cheni Kwok in:

  5. Search for Polly A. Weller in:

  6. Search for Milena Stevanović in:

  7. Search for Jean Weissenbach in:

  8. Search for Sahar Mansour in:

  9. Search for Ian D. Young in:

  10. Search for Peter N. Goodfellow in:

  11. Search for J. David Brook in:

  12. Search for Alan J. Schafer in:

About this article

Publication history

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.