Population structure of the human pseudoautosomal boundary

Nature. 1990 Apr 12;344(6267):663-5. doi: 10.1038/344663a0.


The mammalian sex chromosomes are composed of two genetically distinct segments: the pseudoautosomal region, where recombination occurs between the X and Y chromosomes, and the sex chromosome-specific parts. Between these two segments the human sex chromosomes differ by the insertion of an Alu element on the Y chromosome. We have surveyed the sequence variation in the boundary region using the polymerase chain reaction. Fifty seven Y and sixty X chromosomes from ten different human populations were analysed. The X chromosomes were found to be polymorphic at five positions in a 300-base-pair region. By contrast, all Y chromosomes were identical except for one distal polymorphism shared with the X chromosome.

Publication types

  • Comparative Study

MeSH terms

  • Base Sequence
  • Biological Evolution
  • DNA / genetics*
  • Haplotypes
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Repetitive Sequences, Nucleic Acid
  • X Chromosome*
  • Y Chromosome*


  • DNA