Article
Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.
Human mutation - 1 May 2016
Smith Thomas, Ho Gladys, Christodoulou John, Price Elizabeth Ann, Onadim Zerrin, Gauthier-Villars Marion, Dehainault Catherine, Houdayer Claude, Parfait Beatrice, van Minkelen Rick, Lohman Dietmar, Eyre-Walker Adam
Abstract excerpt
We have investigated whether the mutation rate varies between genes and sites using de novo mutations (DNMs) from three genes associated with Mendelian diseases (RB1, NF1, and MECP2). We show that the relative frequency of mutations at CpG dinucleotides relative to non-CpG sites varies between genes and relative to the genomic average. In particular we show that the rate of transition mutation at CpG sites...
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