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

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

Research output: Contribution to journalArticle

91 Citations (Scopus)

Abstract

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
JournalNature
Volume337
Issue number6202
StatePublished - 1989
Externally publishedYes

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Y Chromosome
X Chromosome
Genetic Recombination
Sex Chromosomes
Insertional Mutagenesis
Telomere
Primates
Testis
DNA
Genes
Pseudoautosomal Regions

ASJC Scopus subject areas

  • General

Cite this

Ellis, N., Goodfellow, P. J., Pym, B., Smith, M., Palmer, M., Frischauf, A. M., & Goodfellow, P. N. (1989). The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome. Nature, 337(6202), 81-84.

The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome. / Ellis, Nathan; Goodfellow, Paul J.; Pym, Barbara; Smith, Matthijs; Palmer, Mark; Frischauf, Anna Maria; Goodfellow, Peter N.

In: Nature, Vol. 337, No. 6202, 1989, p. 81-84.

Research output: Contribution to journalArticle

Ellis, N, Goodfellow, PJ, Pym, B, Smith, M, Palmer, M, Frischauf, AM & Goodfellow, PN 1989, 'The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome', Nature, vol. 337, no. 6202, pp. 81-84.
Ellis N, Goodfellow PJ, Pym B, Smith M, Palmer M, Frischauf AM et al. The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome. Nature. 1989;337(6202):81-84.
Ellis, Nathan ; Goodfellow, Paul J. ; Pym, Barbara ; Smith, Matthijs ; Palmer, Mark ; Frischauf, Anna Maria ; Goodfellow, Peter N. / The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome. In: Nature. 1989 ; Vol. 337, No. 6202. pp. 81-84.
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