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Male-driven biased gene conversion governs the evolution of base composition in human alu repeats.
Uppsala University, Teknisk-naturvetenskapliga vetenskapsområdet, Faculty of Science and Technology, Department of Evolution, Genomics and Systematics. Uppsala University, Teknisk-naturvetenskapliga vetenskapsområdet, Faculty of Science and Technology, Department of Evolution, Genomics and Systematics, Evolutionary Biology. Evolutionsbiologi. (Molecular Evolution)
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2005 (English)In: Mol Biol Evol, ISSN 0737-4038, Vol. 22, no 6, 1468-74 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2005. Vol. 22, no 6, 1468-74 p.
Keyword [en]
Alu Elements/*genetics, Animals, Base Composition, CpG Islands, Crossing Over; Genetic, Databases; Genetic, Evolution, Evolution; Molecular, Female, Genome; Human, Humans, Male, Models; Genetic, Mutation, Polymorphism; Genetic, Polymorphism; Single Nucleotide, Recombination; Genetic, Research Support; Non-U.S. Gov't, Sex Factors
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Genetics
Identifiers
URN: urn:nbn:se:uu:diva-76407PubMedID: 15772377OAI: oai:DiVA.org:uu-76407DiVA: diva2:104319
Note
Fullt text article at mbe.oupjournals.orgAvailable from: 2006-03-02 Created: 2006-03-02 Last updated: 2011-01-11

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Webster, Matthew TEllegren, Hans

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