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Title: Gene conversion between the X chromosome and the male-specific region of the Y chromosone at a translocation hotspot
Authors: Rosser, Zoë H.
Balaresque, Patricia L.
Jobling, Mark A.
First Published: 2-Jul-2009
Publisher: Elsevier (cell Press)
Citation: American Journal of Human Genetics, 2009, 85(1),pp.130-134
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 ~ 100 bp. Sequence exchange outside the pseudoautosomal regions could play a role in protecting the Y-linked copies of gametologous genes from degeneration.
DOI Link: 10.1016/j.ajhg.2009.06.009
ISSN: 0002-9297
Type: Article
Rights: This is the authors' final draft of the paper published as American Journal of Human Genetics, 2009, 85(1),pp.130-134. The definitive version is available at doi:10.1016/j.ajhg.2009.06.009
Appears in Collections:Published Articles, Dept. of Genetics

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