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The genetic basis of testis determination in man

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Abstract

The mechanisms by which testes can arise in the apparent absence of a Y chromosome are now becoming clarified. Evidence that Y chromosome-specific DNA occurs in the genomes of XX males has been produced (Guellaen et al. 1984; Vergnaud et al. 1986). It can be reasonably assumed that the testis determining factor (TDF) is amongst those DNA sequences that occur in many XX males. As only a small portion of Yp DNA is necessary to bring about maleness there is reason to believe that TDF alone is responsible for maleness. At any rate present evidence does not suggest that sequences from Yq and/or autosomes are involved in the determination of maleness. A current major challenge for molecular biologists is indeed to further map, characterize, and clone TDF, whose nature is totally unknown. This gene should be of general biological interest in that it may be highly conserved and thus identical or similar between species. In this brief update on current research we shall deal with a number of aspects of XX maleness that still need clarification.

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References

  • Alvesalo, L. and A. de la Chapelle 1981. Tooth sizes in two males with deletions of the long arm of the Y chromosome. Ann. Hum. Genet. 54: 49–54.

    Article  Google Scholar 

  • Andersson, M., D.C. Page, and A. de la Chapelle 1986.-Chromosome Y-specific DNA is transferred to the short arm of the X-chromosome in human XX males. Science 233: 386–390.

    Google Scholar 

  • Cooke, H.J., W.R.A. Brown and G.A. Rappold 1985. Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature 317: 687–692.

    Article  Google Scholar 

  • de la Chapelle, A. 1972. Nature and origin of males with XX sex chromosomes. Am. J. Hum. Genet. 24: 71–105.

    Google Scholar 

  • de la Chapelle, A., J. Schröder, J. Murros and G. Tallqvist 1977. Two XX males in one family and additional observations bearing on the etiology of XX males. Clin. Genet. 11: 91–106.

    Article  Google Scholar 

  • de la Chapelle, A., G.C. Koo and S.S. Wachtel 1978. Recessive sex-determining genes in human XX male syndrome. Cell 15: 837–842.

    Article  Google Scholar 

  • de la Chapelle, A. 1981. The etiology of maleness in XX men. Hum. Genet. 58: 105–116.

    Article  Google Scholar 

  • de la Chapelle, A., P.A. Tippett, G. Wetterstrand and D. Page 1984. Genetic evidence of X-Y interchange in a human XX male. Nature 307: 170–171.

    Article  Google Scholar 

  • de la Chapelle, A., D.C. Page, L. Brown, U. Kaski, T. Parvinen and P.A. Tippett 1986. The origin of 45, X males. Am. J. Hum. Genet. 38: 330–340.

    Google Scholar 

  • de la Chapelle, A. 1986. Sex reversal: Genetic and molecular studies on 46, XX and 45, X males. In: Molecular Biology of Homo Sapiens. Cold Spring Harbor Symposium on Quantitative Biology, (in the press).

    Google Scholar 

  • Goodfellow, P.N., K.E. Davies, and H.H. Ropers 1985. Human Gene Mapping 8. Report of the committee on the genetic constitution of the X and Y chromosomes. Cytogenet. Cell Genet. 40: 296–352.

    Article  Google Scholar 

  • Guellaen, G., M. Casanova, C. Bishop, D. Geldwerth, G. Andre, M. Fellous, and J. Weissenbach 1984. Human XX males with Y single-copy fragments. Nature 307: 172–173.

    Article  Google Scholar 

  • Müller, U., M. Lalande, T. Donlon and S.A. Latt 1986.-Moderately repeated DNA sequences specific for the short arm of the human Y chromosome are present in XX males and reduced in copy number in an XY female. Nucl. Acid. Res. 14: 1325–1340.

    Article  Google Scholar 

  • Page, D.C. and A. de la Chapelle 1984. The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms. Am. J. Hum. Genet. 36: 565–575.

    Google Scholar 

  • Page, D.C, A. de la Chapelle, and J. Weissenbach 1985.-Chromosome Y-specific DNA in related human XX males. Nature 315: 224–226.

    Article  Google Scholar 

  • Rouyer, F., M.-C. Simmler, C. Johnsson, G. Vergnaud, H.J. Cooke, and J. Weissenbach 1986. A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature 319: 291–295.

    Article  Google Scholar 

  • Sanger, R., P. Tippett, and J. Gavin 1971. The X-linked blood group system Xg: tests on unrelated people and families of Northern European ancestry. J. Med. Genet. 8: 427–433.

    Article  Google Scholar 

  • Seboun, E., P. Leroy, M. Casanova, E. Magenis, C. Boucekkine, C. Disteche, C. Bishop and M. Fellous 1986. A molecular approach to the study of the human Y chromosome and anomalies of sex determination in man. In: Molecular Biology of Homo Sapiens. Cold Spring Harbor Symposium on Quantative Biology, (in the press).

    Google Scholar 

  • Simmler, M.-C, F. Rouyer, G. Vergnaud, M. Nyström-Lahti, K.Y. Ngo, A. de la Chapelle and J. Weissenbach 1985. Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature 317: 692–697.

    Article  Google Scholar 

  • Vergnaud, G., D. C. Page, M.-C. Simmler, L. Brown, F. Rouyer, B. Noel, D. Botstein, A. de la Chapelle and J. Weissenbach 1986. A deletion map of the human Y chromosome based on DNA hybridization. Am. J. Hum. Genet. 38: 109–124.

    Google Scholar 

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© 1987 The Organising Committee of the Ninth International Chromosome Conference, Marseille

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de la Chapelle, A. (1987). The genetic basis of testis determination in man. In: Stahl, A., Luciani, J.M., Vagner-Capodano, A.M. (eds) Chromosomes Today. Springer, Dordrecht. https://doi.org/10.1007/978-94-010-9166-4_15

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  • DOI: https://doi.org/10.1007/978-94-010-9166-4_15

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-9168-8

  • Online ISBN: 978-94-010-9166-4

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