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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.
|Issue Date: ||Apr-2007|
|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|
|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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