Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes

Nat Genet. 1992 Dec;2(4):311-4. doi: 10.1038/ng1292-311.

Abstract

The recently identified gene for X-linked Kallmann syndrome (hypogonadotropic hypogonadism and anosmia) has a closely related homologue on the Y chromosome. The X and Y copies of this gene are located in a large region of X/Y homology, on Xp22.3 and Yq11.2, respectively. Comparison of the structure of the X-linked Kallmann syndrome gene and its Y homologue shed light on the evolutionary history of this region of the human sex chromosomes. Our data show that the Y homologue is not functional. Comparative analysis of X/Y sequence identity at several loci on Xp22.3 and Yq11.2 suggests that the homology between these two regions is the result of a complex series of events which occurred in the recent evolution of sex chromosomes.

Publication types

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

MeSH terms

  • Base Sequence
  • Biological Evolution*
  • Chromosome Mapping
  • DNA / genetics
  • Exons
  • Humans
  • Kallmann Syndrome / genetics*
  • Male
  • Molecular Sequence Data
  • Sequence Homology, Nucleic Acid
  • X Chromosome*
  • Y Chromosome*

Substances

  • DNA

Associated data

  • GENBANK/X68743
  • GENBANK/X68774