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Mutation mechanisms that underlie turnover of a human telomere-adjacent segmental duplication containing an unstable minisatellite.

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posted on 2007-06-19, 09:06 authored by Mark Hills, Jennie N. Jeyapalan, Jennifer L. Foxon, Nicola J. Royle
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.

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Citation

Genomics, 2007, 89 (4), pp.480-489.

Published in

Genomics

Publisher

Elsevier

Available date

2007-06-19

Publisher version

http://www.sciencedirect.com/science/article/pii/S0888754307000031

Notes

This is the author's final draft of an article published in Genomics http://www.elsevier.com/wps/find/journaldescription.cws_home/622838/description#description

Language

en

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