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Curr Opin Genet Dev. 2003 Dec;13(6):562-8.

Mutation rate variation in the mammalian genome.

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Department of Evolutionary Biology, Uppsala University, Norbyvägen 18D, SE-752 36 Uppsala, Sweden.


Recent advances in the large-scale sequencing of mammalian genomes have provided a means to study divergence in not only genic sequences but also in the non-coding bulk of DNA. There is evidence of significant variation in the levels of divergence between presumably neutral regions, pointing at an underlying variation in the rate of mutation across the genome. Apparently, such variation occurs on different scales, including sequence context effects (the influence of neighboring nucleotides on the rate of mutation at individual sites), variation within chromosomes (on the scales of kilobases as well as megabases), and between chromosomes (among autosomes as well as between autosomes and sex chromosomes). An important aspect for further research in this area is to study whether there is an ultimate evolutionary explanation for mutation rate variation within mammalian genomes.

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