2009
DOI: 10.1016/j.ajhg.2009.06.009
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Gene Conversion between the X Chromosome and the Male-Specific Region of the Y Chromosome at a Translocation Hotspot

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… Show more

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Cited by 74 publications
(68 citation statements)
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“…They would not be expected if recombination stopped due to an event in the genome region affected (e.g., an inversion causing Y linkage of a PAR haplotype of the region), because diversity in the Y would be eliminated in the resulting selective sweep. However, the X-and Y-linked alleles could still recombine in regions away from inversion breakpoints, through double crossovers or by gene conversion, which has been documented in the male-specific regions of mammalian sex chromosome pairs (Slattery et al 2000;Rosser et al 2009;Trombetta et al 2010;Ellegren 2011), particularly in the moderately recent stratum 4 (Iwase et al 2010). However, the locations of the shared polymorphisms are not clustered, and do not suggest gene conversion.…”
Section: Population Genetic Tests Of Par Locations Of Candidate Par Gmentioning
confidence: 94%
“…They would not be expected if recombination stopped due to an event in the genome region affected (e.g., an inversion causing Y linkage of a PAR haplotype of the region), because diversity in the Y would be eliminated in the resulting selective sweep. However, the X-and Y-linked alleles could still recombine in regions away from inversion breakpoints, through double crossovers or by gene conversion, which has been documented in the male-specific regions of mammalian sex chromosome pairs (Slattery et al 2000;Rosser et al 2009;Trombetta et al 2010;Ellegren 2011), particularly in the moderately recent stratum 4 (Iwase et al 2010). However, the locations of the shared polymorphisms are not clustered, and do not suggest gene conversion.…”
Section: Population Genetic Tests Of Par Locations Of Candidate Par Gmentioning
confidence: 94%
“…1 In fact, in most XX males, SRY is transposed to the tip of Xp as a consequence of a recurrent Xp;Yp translocation, arising predominantly by nonallelic homologous recombination between PRKX and PRKY on a particular Y haplotypic background. 2,3 These males, usually with small testes, are essentially picked up among men with nonobstructive azoospermia.…”
Section: Introductionmentioning
confidence: 99%
“…Throughout this article, we ignore the pseudoautosomal region(s) (PAR) of the X chromosome, which undergoes crossing over with the Y chromosome in males (Koller and Darlington 1934) to ensure proper disjunction in meiosis I (Hassold et al 1991). We also ignore gene conversion that is known to occur on the X (Rosser et al 2009). …”
mentioning
confidence: 99%