ArticleGenome biology and evolution2011
Mutation rate distribution inferred from coincident SNPs and coincident substitutions.
Article in Genome biology and evolution, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 52 citations in OpenAlex.
- A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription.Nature genetics · 2023Article
- Article
- On the prospect of achieving accurate joint estimation of selection with population history.Genome biology and evolution · 2022Article
- Mutational Signatures of Replication Timing and Epigenetic Modification Persist through the Global Divergence of Mutation Spectra across the Great Ape Phylogeny.Genome biology and evolution · 2022Article
- The origin of human mutation in light of genomic data.Nature reviews. Genetics · 2021Review
- A statistical method to identify recombination in bacterial genomes based on SNP incompatibility.BMC bioinformatics · 2018Article
- APOBEC3A/B-induced mutagenesis is responsible for 20% of heritable mutations in the TpCpW context.Genome research · 2017Article
- Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans.PLoS genetics · 2016Article
- Purifying selection shapes the coincident SNP distribution of primate coding sequences.Scientific reports · 2016Article
- Article
- How much of the variation in the mutation rate along the human genome can be explained?G3 (Bethesda, Md.) · 2014Article
- Interaction-based evolution: how natural selection and nonrandom mutation work together.Biology direct · 2013Article
- Prevalence of multinucleotide replacements in evolution of primates and Drosophila.Molecular biology and evolution · 2013Article
- Variation in the mutation rate across mammalian genomes.Nature reviews. Genetics · 2011Review
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutation rate variation has the potential to bias evolutionary inference, particularly when rates become much higher than the mean. We first confirm prior work that inferred the existence of cryptic, site-specific rate variation on the basis of coincident polymorphisms-sites that are segregating in both humans and chimpanzees. Then we extend this observation to a longer evolutionary timescale by identifying sites of coincident substitutions using four species. From these data, we develop analytic theory to infer the variance and skewness of the distribution of mutation rates. Even excluding CpG dinucleotides, we find a relatively large coefficient of variation and positive skew, which suggests that, although most sites in the genome have mutation rates near the mean, the distribution contains a long right-hand tail with a small number of sites having high mutation rates. At least for primates, these quickly mutating sites are few enough that the infinite sites model in population genetics remains appropriate.
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