The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome

Nathan A. Ellis, Paul J. Goodfellow, Barbara Pym, Matthijs Smith, Mark Palmer, Anna Maria Frischauf, Peter N. Goodfellow

Research output: Contribution to journalArticlepeer-review

102 Scopus citations


The Y chromosome, which in man determines the male sex (reviewed in ref. 1), is composed of two functionally distinct regions. The pseudoautosomal region is shared between the X and Y chromosome and is probably required for the correct segregation of the sex chromosomes during male meiosis2. The second region includes the sex-determining gene(s), the presence of which is necessary for the development of testes. The two regions have contrasting genetic properties: the pseudoautosomal region recombines between the X and Y chromosome3; the Y-specific region must avoid recombination otherwise the chromosomal basis of sex-determination breaks down1. The pseudoautosomal region is bounded at the distal end by the telomere and at the proximal end by X- and Y-specific DNA. We have found that the proximal boundary was formed by the insertion of an Alu sequence on the Y chromosome early in the primate lineage. Proximal to the Alu insertion there is a small region where similarity between the X and Y chromosomes is reduced and which is no longer subject to recombination.

Original languageEnglish (US)
Pages (from-to)81-84
Number of pages4
Issue number6202
StatePublished - 1989

ASJC Scopus subject areas

  • General


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