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.
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References
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).
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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
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DOI: https://doi.org/10.1038/307170a0
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