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.

Genetic evidence of X–Y interchange in a human XX male

Abstract

Of the hypotheses put forward to explain why occasional individuals with two X chromosomes are nonetheless male, the one that has attracted most attention is the possibility1 that one of the X chromosomes has obtained a small piece of Y chromosome which is sufficient to produce ‘maleness’. This hypothesis was based primarily on the observation that in two families with XX males2–4 both fathers were Xg(a+) and both probands Xg(a−). (Xg shows X-linked dominant inheritance.) This theory holds that an anomalous X–Y interchange at meiosis in the father resulted hi the paternal X chromosome's losing the Xg gene and acquiring a male-determining gene from the Y chromosome. While, for example, the frequencies of Xg phenotypes among XX males5,6 and the cytogenetic observation of a structural abnormality in one X7,8 are compatible with this hypothesis, direct evidence of it is lacking. Here we describe an XX male who expresses his father's allele for 12E7, a Y-linked marker, but fails to express his father's allele for Xg, an X-linked marker. These findings strongly suggest that anomalous X–Y interchange occurred in this case and perhaps in that of many other XX males. We suggest that a male-determining gene on the Y has also been translocated to the X and caused maleness in the proband. These results are discussed in the light of current models of X–Y chromosomal homology.

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

References

  1. 1

    Ferguson-Smith, M. A. Lancet ii, 475–476 (1966).

    Article  Google Scholar 

  2. 2

    de la Chapelle, A., Hortling, H., Niemi, M. & Wennström, J. Acta med. scand. Suppl. 412, 25–38 (1964).

    Google Scholar 

  3. 3

    de la Chapelle, A., Hortling, H., Wennström, J., Niemi, M. & Johansson, C.-J. Acta endocr. Suppl. 100, 90 (1965).

  4. 4

    de la Chapelle, A., Similä, S., Lanning, M., Kontturi, M. & Johansson, C.-J. Hum. Genet. 11, 286–294 (1971).

    CAS  Article  Google Scholar 

  5. 5

    Race, R. & Sanger, R. Blood Groups in Man 6th edn (Blackwell, Oxford, 1975).

    Google Scholar 

  6. 6

    de la Chapelle, A. Hum. Genet. 58, 105–116 (1981).

    CAS  Article  Google Scholar 

  7. 7

    Evans, H. J., Buckton, K. E., Spowart, G. & Carothers, A. D. Hum. Genet. 49, 11–31 (1979).

    CAS  PubMed  Google Scholar 

  8. 8

    Magenis, R. R. et al. Hum. Genet. 62, 271–276 (1982).

    CAS  Article  Google Scholar 

  9. 9

    Page, D. et al. Proc. natn. Acad. Sci. U.S.A. 79, 5352–5356 (1982).

    ADS  CAS  Article  Google Scholar 

  10. 10

    Goodfellow, P. N. & Tippett, P. Nature 289, 404–405 (1981).

    ADS  CAS  Article  Google Scholar 

  11. 11

    Tippett, P., Shaw, M.-A., Daniels, G. L. & Green, C. A. Human Gene Mapping Vol. 7 (in the press).

  12. 12

    Pearson, P. C. & Bobrow, M. Nature 226, 959–961 (1970).

    ADS  CAS  Article  Google Scholar 

  13. 13

    Moses, M. J., Counce, S. J. & Paulson, D. F. Science 187, 363–365 (1975).

    ADS  CAS  Article  Google Scholar 

  14. 14

    Polani, P. E. in Mechanisms of Sex Differentiation in Animals and Man (eds Austin, C. R. & Edwards, R. G.) 465–488 (Academic, London, 1981).

    Google Scholar 

  15. 15

    Polani, P. E. Hum. Genet. 60, 207–211 (1982).

    CAS  Article  Google Scholar 

  16. 16

    Burgoyne, P. S. Hum. Genet. 61, 85–90 (1982).

    CAS  Article  Google Scholar 

  17. 17

    Ferguson-Smith, M. A., Sanger, R., Tippett, P., Aitken, D. A. & Boyd, E. Cytogenet. Cell Genet. 32, 273–274 (1982).

    Google Scholar 

  18. 18

    Goodfellow, P. et al. Nature 302, 346–349 (1983).

    ADS  CAS  Article  Google Scholar 

  19. 19

    Singh, L. & Jones, K. W. Cell 28, 205–216 (1982).

    CAS  Article  Google Scholar 

  20. 20

    Evans, E. P., Burtenshaw, M. D. & Cattanach, B. M. Nature 300, 443–445 (1982).

    ADS  CAS  Article  Google Scholar 

Download references

Author information

Affiliations

Authors

Rights and permissions

Reprints and Permissions

About this article

Cite this article

de la Chapelle, A., Tippett, P., Wetterstrand, G. et al. Genetic evidence of X–Y interchange in a human XX male. Nature 307, 170–171 (1984). https://doi.org/10.1038/307170a0

Download citation

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

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