Gene conversion homogenizes the CMT1A paralogous repeats

被引：28

作者：

Hurles M.E. ^{[1
]}

机构：

[1] McDonald Inst. for Archaeol. Res., University of Cambridge, Cambridge

来源：

BMC Genomics | / 2卷 / 1期

关键词：

Gene Conversion; Gene Conversion Event; Interactive Data Language; Disperse Repeat; Absolute Identity;

D O I：

10.1186/1471-2164-2-11

中图分类号：

学科分类号：

摘要：

Background: Non-allelic homologous recombination between paralogous repeats is increasingly being recognized as a major mechanism causing both pathogenic microdeletions and duplications, and structural polymorphism in the human genome. It has recently been shown empirically that gene conversion can homogenize such repeats, resulting in longer stretches of absolute identity that may increase the rate of non-allelic homologous recombination. Results: Here, a statistical test to detect gene conversion between pairs of non-coding sequences is presented. It is shown that the 24 kb Charcot-Marie-Tooth type 1A paralogous repeats (CMT1A- REPs) exhibit the imprint of gene conversion processes whilst control orthologous sequences do not. In addition, Monte Carlo simulations of the evolutionary divergence of the CMT1A-REPs, incorporating two alternative models for gene conversion, generate repeats that are statistically indistinguishable from the observed repeats. Bounds are placed on the rate of these conversion processes, with central values of 1.3 × 10-4 and 5.1 × 10-5 per generation for the alternative models. Conclusions: This evidence presented here suggests that gene conversion may have played an important role in the evolution of the CMT1A-REP paralogous repeats. The rates of these processes are such that it is probable that homogenized CMT1A-REPs are polymorphic within modern populations. Gene conversion processes are similarly likely to play an important role in the evolution of other segmental duplications and may influence the rate of non-allelic homologous recombination between them. © 2001 Hurles: lincensee BioMed Central Ltd.

引用

页数：9

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