Male-driven biased gene conversion governs the evolution of base composition in human Alu repeats

被引:56
作者
Webster, MT [1 ]
Smith, NGC
Hultin-Rosenberg, L
Arndt, PF
Ellegren, H
机构
[1] Uppsala Univ, Evolutionary Biol Ctr, Dept Evolut Genom & Systemat, Uppsala, Sweden
[2] Univ Lancaster, Dept Math & Stat, Lancaster, England
[3] Max Planck Inst Mol Genet, Berlin, Germany
关键词
isochore; base composition; Alu; mutation; recombination; SNP;
D O I
10.1093/molbev/msi136
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Regional biases in substitution pattern are likely to be responsible for the large-scale variation in base composition observed in vertebrate genomes. However, the evolutionary forces responsible for these biases are still not clearly defined. In order to study the processes of mutation and fixation across the entire human genome, we analyzed patterns of substitution in Alu repeats since their insertion. We also studied patterns of human polymorphism within the repeats. There is a highly significant effect of recombination rate on the pattern of substitution, whereas no such effect is seen on the pattern of polymorphism. These results suggest that regional biases in substitution are caused by biased gene conversion, a process that increases the probability of fixation of mutations that increase GC content. Furthermore, the strongest correlate of substitution patterns is found to be male recombination rates rather than female or sex-averaged recombination rates. This indicates that in addition to sexual dimorphism in recombination rates, the sexes also differ in the relative rates of crossover and gene conversion.
引用
收藏
页码:1468 / 1474
页数:7
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