Population structure of the human pseudoautosomal boundary

Nathan Ellis, Anne Taylor, Bengt O. Bengtsson, Judy Kidd, Jeffrey Rogers, Peter Goodfellow

Research output: Contribution to journalArticlepeer-review

61 Scopus citations


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 parts1,2. Between these two segments the human sex chromosomes differ by the insertion of an Alu element on the Y chromosome3. 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.

Original languageEnglish (US)
Pages (from-to)663-665
Number of pages3
Issue number6267
StatePublished - 1990

ASJC Scopus subject areas

  • General


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