Evolution of Local Mutation Rate and Its Determinants

Nadezhda V. Terekhanova, Vladimir B. Seplyarskiy, Ruslan A. Soldatov, Georgii A. Bazykin

    Research output: Contribution to journalArticlepeer-review

    12 Citations (Scopus)


    Mutation rate varies along the human genome, and part of this variation is explainable by measurable local properties of the DNA molecule. Moreover, mutation rates differ between orthologous genomic regions of different species, but the drivers of this change are unclear. Here, we use data on human divergence from chimpanzee, human rare polymorphism, and human de novo mutations to predict the substitution rate at orthologous regions of non-human mammals. We show that the local mutation rates are very similar between human and apes, implying that their variation has a strong underlying cryptic component not explainable by the known genomic features. Mutation rates become progressively less similar in more distant species, and these changes are partially explainable by changes in the local genomic features of orthologous regions,most importantly, in the recombination rate. However, they aremuchmore rapid, implying that the cryptic component underlying the mutation rate is more ephemeral than the known genomic features. These findings shed light on the determinants of mutation rate evolution.

    Original languageEnglish
    Pages (from-to)1100-1109
    Number of pages10
    JournalMolecular Biology and Evolution
    Issue number5
    Publication statusPublished - 1 May 2017


    • Local mutation rate
    • Molecular evolution
    • Recombination rate


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