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Am J Hum Genet. 2009 Jul;85(1):130-4. doi: 10.1016/j.ajhg.2009.06.009. Epub 2009 Jul 2.

Gene conversion between the X chromosome and the male-specific region of the Y chromosome at a translocation hotspot.

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1
Department of Genetics, University of Leicester, University Road, Leicester, UK.

Abstract

Outside the pseudoautosomal regions, the mammalian sex chromosomes are thought to have been genetically isolated for up to 350 million years. However, in humans pathogenic XY translocations occur in XY-homologous (gametologous) regions, causing sex-reversal and infertility. Gene conversion might accompany recombination intermediates that resolve without translocation and persist in the population. We resequenced X and Y copies of a translocation hotspot adjacent to the PRKX and PRKY genes and found evidence of historical exchange between the male-specific region of the human Y and the X in patchy flanking gene-conversion tracts on both chromosomes. The rate of X-to-Y conversion (per base per generation) is four to five orders of magnitude more rapid than the rate of Y-chromosomal base-substitution mutation, and given assumptions about the recombination history of the X locus, tract lengths have an overall average length of approximately 100 bp. Sequence exchange outside the pseudoautosomal regions could play a role in protecting the Y-linked copies of gametologous genes from degeneration.

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PMID:
19576564
PMCID:
PMC2706966
DOI:
10.1016/j.ajhg.2009.06.009
[Indexed for MEDLINE]
Free PMC Article

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