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Title: Mutation mechanisms that underlie turnover of a human telomere-adjacent segmental duplication containing an unstable minisatellite.
Authors: Hills, Mark
Jeyapalan, Jennie N.
Foxon, Jennifer L.
Royle, Nicola J.
First Published: Apr-2007
Publisher: Elsevier
Citation: Genomics, 2007, 89 (4), pp.480-489.
Abstract: Subterminal regions, juxtaposed to telomeres on human chromosomes, contain a high density of segmental duplications but relatively little is known about the evolutionary processes that underlie sequence turnover in these regions. We have characterised a segmental duplication adjacent to the Xp/Yp telomere, each copy containing a hypervariable array of the DXYS14 minisatellite. Both DXYS14 repeat arrays mutate at a high rate (0.3% and 0.2% per gamete) but linkage disequilibrium analysis across 27 SNPs and a direct crossover assay show that recombination during meiosis is suppressed. Therefore instability at DXYS14a and b is dominated by intra-allelic processes or possibly conversion limited to the repeat arrays. Furthermore some chromosomes (14%) carry only one copy of the duplicon, including one DXYS14 repeat array that is also highly mutable (1.2% per gamete). To explain these and other observations, we propose there is another low rate mutation process that causes copy number change of part or all of the duplicon.
DOI Link: 10.1016/j.ygeno.2006.12.011
Type: Article
Description: This is the author's final draft of an article published in Genomics
Appears in Collections:Published Articles, Dept. of Genetics

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