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Chromosome Y-specific DNA in related human XX males


Human ‘XX males’ are sterile males whose chromosomes seem to be those of a normal female. About 1 in 20,000 males has a 46, XX karyotype, and most cases are sporadic, that is, they are without familial clustering1. It has long been argued that maleness in XX males may result from the undetected presence of a small, testis-determining fragment of the Y chromosome2, and there is strong evidence for this in sporadically occurring XX males3–5. Indeed, the genomes of three of four sporadic XX males tested were found to contain certain Y-specific DNA sequences6. A pedigree in which three XX males occur has been interpreted as being consistent with autosomal recessive inheritance of maleness7,8, and it has been argued that the basis of XX maleness in this family is fundamentally different from that in the sporadic cases9. However, we report here that these related XX males, like the sporadic cases, contain portions of the Y chromosome. The portion of the Y chromosome present in one of the three XX males differs from that present in the other two.

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  1. 1

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

    CAS  Article  Google Scholar 

  2. 2

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

    Article  Google Scholar 

  3. 3

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

    CAS  PubMed  Google Scholar 

  4. 4

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

    CAS  Article  Google Scholar 

  5. 5

    de la Chapelle, A., Tippett, P. A., Wetterstrand, G. & Page, D. Nature 307, 170–171 (1984).

    ADS  CAS  Article  Google Scholar 

  6. 6

    Guellaen, G. et al. Nature 307, 172–173 (1984).

    ADS  CAS  Article  Google Scholar 

  7. 7

    de la Chapelle, A., Schröder, J., Murros, J. & Tallqvist, G. Clin. Genet. 11, 91–106 (1977).

    Article  Google Scholar 

  8. 8

    de la Chapelle, A., Koo, G. C. & Wachtel, S. S. Cell 15, 837–842 (1978).

    CAS  Article  Google Scholar 

  9. 9

    Burgoyne, P. Nature 307, 109 (1984).

    ADS  Article  Google Scholar 

  10. 10

    Kasdan, R. et al. New Engl. J. Med. 288, 539–545 (1973).

    CAS  Article  Google Scholar 

  11. 11

    Minowada, S. et al. Clin. Genet. 15, 399–405 (1979).

    CAS  Article  Google Scholar 

  12. 12

    Nicolis, G. L. et al. Am. J. Med. 52, 482–491 (1972).

    CAS  Article  Google Scholar 

  13. 13

    Page, D. C. & de la Chapelle, A. Am. J. hum. Genet. 36, 565–575 (1984).

    CAS  PubMed  PubMed Central  Google Scholar 

  14. 14

    Southern, E. M. J. molec. Biol. 98, 503–517 (1975).

    CAS  Article  Google Scholar 

  15. 15

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

    CAS  Article  Google Scholar 

  16. 16

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

    ADS  CAS  Article  Google Scholar 

  17. 17

    Eicher, E. M. in Prospects for Sexing Mammalian Sperm (eds Amann, R. P. & Seidel, G. E.) (Colorado Associated University Press, Boulder, 1982).

    Google Scholar 

  18. 18

    Berg, K. & Bearn, A. G. A. Rev. Genet. 2, 341–362 (1968).

    Article  Google Scholar 

Download references

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Page, D., de la Chapelle, A. & Weissenbach, J. Chromosome Y-specific DNA in related human XX males. Nature 315, 224–226 (1985).

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