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.
Subscribe to Journal
Get full journal access for 1 year
only $3.90 per issue
All prices are NET prices.
VAT will be added later in the checkout.
Tax calculation will be finalised during checkout.
Rent or Buy article
Get time limited or full article access on ReadCube.
All prices are NET prices.
Ferguson-Smith, M. A. Lancet ii, 475–476 (1966).
de la Chapelle, A., Hortling, H., Niemi, M. & Wennström, J. Acta med. scand. Suppl. 412, 25–38 (1964).
de la Chapelle, A., Hortling, H., Wennström, J., Niemi, M. & Johansson, C.-J. Acta endocr. Suppl. 100, 90 (1965).
de la Chapelle, A., Similä, S., Lanning, M., Kontturi, M. & Johansson, C.-J. Hum. Genet. 11, 286–294 (1971).
Race, R. & Sanger, R. Blood Groups in Man 6th edn (Blackwell, Oxford, 1975).
de la Chapelle, A. Hum. Genet. 58, 105–116 (1981).
Evans, H. J., Buckton, K. E., Spowart, G. & Carothers, A. D. Hum. Genet. 49, 11–31 (1979).
Magenis, R. R. et al. Hum. Genet. 62, 271–276 (1982).
Page, D. et al. Proc. natn. Acad. Sci. U.S.A. 79, 5352–5356 (1982).
Goodfellow, P. N. & Tippett, P. Nature 289, 404–405 (1981).
Tippett, P., Shaw, M.-A., Daniels, G. L. & Green, C. A. Human Gene Mapping Vol. 7 (in the press).
Pearson, P. C. & Bobrow, M. Nature 226, 959–961 (1970).
Moses, M. J., Counce, S. J. & Paulson, D. F. Science 187, 363–365 (1975).
Polani, P. E. in Mechanisms of Sex Differentiation in Animals and Man (eds Austin, C. R. & Edwards, R. G.) 465–488 (Academic, London, 1981).
Polani, P. E. Hum. Genet. 60, 207–211 (1982).
Burgoyne, P. S. Hum. Genet. 61, 85–90 (1982).
Ferguson-Smith, M. A., Sanger, R., Tippett, P., Aitken, D. A. & Boyd, E. Cytogenet. Cell Genet. 32, 273–274 (1982).
Goodfellow, P. et al. Nature 302, 346–349 (1983).
Singh, L. & Jones, K. W. Cell 28, 205–216 (1982).
Evans, E. P., Burtenshaw, M. D. & Cattanach, B. M. Nature 300, 443–445 (1982).
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
Journal of Applied Genetics (2021)
Scientific Reports (2020)
Economic resilience after the Great Recession: an examination of unreserved fund balance in Michigan counties
Local Government Studies (2020)
Annual Review of Genetics (2015)
Annual Review of Genomics and Human Genetics (2012)