Strong linkage disequilibrium between the XY274 polymorphism and the pseudoautosomal boundary

Nathan Ellis, Judy Kidd, Paul J. Goodfellow, Kenneth Kidd, Peter N. Goodfellow

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

The pseudoautosomal boundary is defined by an Alu repeat element on the Y chromosome. The Alu element is found on all Y chromosomes and on no X chromosomes, establishing it as part of Y-specific sequences. Distal to the Alu element, sequences from the X and Y are strictly homologous, suggesting that the boundary is formed by an abrupt break in sequence homology. Further investigation of the function of the boundary has been undertaken by examining the population structure of an MspI restriction-site polymorphism (XY274), which is located 274 bp distal to the Alu insertion site. Southern blot and polymerase chain reaction analysis demonstrate fixation of the high allele (noncutting or AT base pair) of XY274 on the Y chromosome in most populations, while a full range of high allele frequencies is found on the X chromosomes of different populations. Two exceptions to fixation on the Y chromosome were found in African populations. The level of linkage disequilibrium suggests that the first few hundred base pairs of the pseudoautosomal region on the Y chromosome share a single common origin more recent than the origin of the species.

Original languageEnglish (US)
Pages (from-to)950-955
Number of pages6
JournalAmerican Journal of Human Genetics
Volume46
Issue number5
StatePublished - May 1990
Externally publishedYes

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Y Chromosome
Linkage Disequilibrium
Alu Elements
X Chromosome
Base Pairing
Population
Sequence Homology
Southern Blotting
Gene Frequency
Alleles
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Genetics

Cite this

Strong linkage disequilibrium between the XY274 polymorphism and the pseudoautosomal boundary. / Ellis, Nathan; Kidd, Judy; Goodfellow, Paul J.; Kidd, Kenneth; Goodfellow, Peter N.

In: American Journal of Human Genetics, Vol. 46, No. 5, 05.1990, p. 950-955.

Research output: Contribution to journalArticle

Ellis, N, Kidd, J, Goodfellow, PJ, Kidd, K & Goodfellow, PN 1990, 'Strong linkage disequilibrium between the XY274 polymorphism and the pseudoautosomal boundary', American Journal of Human Genetics, vol. 46, no. 5, pp. 950-955.
Ellis, Nathan ; Kidd, Judy ; Goodfellow, Paul J. ; Kidd, Kenneth ; Goodfellow, Peter N. / Strong linkage disequilibrium between the XY274 polymorphism and the pseudoautosomal boundary. In: American Journal of Human Genetics. 1990 ; Vol. 46, No. 5. pp. 950-955.
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