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Title: Purifying Selection, Drift, and Reversible Mutation with Arbitrarily High Mutation Rates
Authors: Charlesworth, Brian
Jain, Kavita
Keywords: Genetics & Heredity
Synonymous Codon Usage
Molecular Hyperdiversity
Epigenetic Variation
DNA Polymorphism
Finite Populations
Segregating Sites
Issue Date: 2014
Publisher: Genetics Society Americanica
Citation: Charlesworth, B; Jain, K, Purifying Selection, Drift, and Reversible Mutation with Arbitrarily High Mutation Rates. Genetics 2014, 198 (4) 1587-+,
Abstract: Some species exhibit very high levels of DNA sequence variability; there is also evidence for the existence of heritable epigenetic variants that experience state changes at a much higher rate than sequence variants. In both cases, the resulting high diversity levels within a population (hyperdiversity) mean that standard population genetics methods are not trustworthy. We analyze a population genetics model that incorporates purifying selection, reversible mutations, and genetic drift, assuming a stationary population size. We derive analytical results for both population parameters and sample statistics and discuss their implications for studies of natural genetic and epigenetic variation. In particular, we find that (1) many more intermediate-frequency variants are expected than under standard models, even with moderately strong purifying selection, and (2) rates of evolution under purifying selection may be close to, or even exceed, neutral rates. These findings are related to empirical studies of sequence and epigenetic variation.
Description: Restricted Access
ISSN: 0016-6731
Appears in Collections:Research Articles (Kavita Jain)

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