Separation of the genetic loci for the H-Y antigen and for testis determination on human Y chromosome

Nature. 1987;326(6116):876-8. doi: 10.1038/326876a0.

Abstract

The mammalian Y chromosome encodes a testis-determining factor (termed TDF in the human), a master regulator of sex differentiation. Embryos with a Y chromosome develop testes and become males whereas embryos lacking a Y chromosome develop ovaries and become females. Expression of H-Y, a minor histocompatibility antigen, may also be controlled by a gene on the Y chromosome, and it has been proposed that this antigen is the testis-determining factor. We have tested the postulated identity of H-Y and TDF in the human. H-Y typing with T cells was carried out on a series of sex-reversed humans (XX males and XY females), each shown by DNA hybridization to carry part but not all of the Y chromosome. This deletion analysis maps the gene for H-Y to the long arm or centromeric region of the human Y chromosome, far from the TDF locus, which maps to the distal short arm.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Deletion
  • Chromosome Mapping
  • Female
  • H-Y Antigen / genetics*
  • Humans
  • Male
  • Sex Chromosome Aberrations / genetics
  • Sex Determination Analysis*
  • T-Lymphocytes / immunology
  • Testis / growth & development
  • Translocation, Genetic
  • Y Chromosome / ultrastructure*

Substances

  • H-Y Antigen