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MBE Advance Access originally published online on March 16, 2005
Molecular Biology and Evolution 2005 22(6):1468-1474; doi:10.1093/molbev/msi136
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© The Author 2005. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oupjournals.org

Male-Driven Biased Gene Conversion Governs the Evolution of Base Composition in Human Alu Repeats

Matthew T. Webster*, Nick G. C. Smith{dagger}, Lina Hultin-Rosenberg*, Peter F. Arndt{ddagger} and Hans Ellegren*

* Department of Evolution, Genomics and Systematics, Evolutionary Biology Centre, Uppsala University, Uppsala, Sweden; {dagger} Department of Mathematics and Statistics, Lancaster University, Lancaster, United Kingdom; and {ddagger} Max Planck Institute for Molecular Genetics, Berlin, Germany

E-mail: matthew.webster{at}ebc.uu.se.

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.

Key Words: isochore • base composition • Alu • mutation • recombination • SNP


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