Population structure of the human pseudoautosomal boundary

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

Research output: Contribution to journalArticle

57 Scopus citations

Abstract

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
JournalNature
Volume344
Issue number6267
DOIs
StatePublished - Jan 1 1990
Externally publishedYes

ASJC Scopus subject areas

  • General

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    Ellis, N., Taylor, A., Bengtsson, B. O., Kidd, J., Rogers, J., & Goodfellow, P. (1990). Population structure of the human pseudoautosomal boundary. Nature, 344(6267), 663-665. https://doi.org/10.1038/344663a0