Purifying selection, drift, and reversible mutation with arbitrarily high mutation rates

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 (hyperdivers...

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Bibliographic Details
Published in:Genetics (Austin) 2014-12, Vol.198 (4), p.1587-1602
Main Authors: Charlesworth, Brian, Jain, Kavita
Format: Article
Language:English
Subjects:
Algorithms
Deoxyribonucleic acid
DNA
Evolution, Molecular
Genetic Drift
Genetics, Population
Investigations
Models, Genetic
Mutation
Mutation Rate
Selection, Genetic
Studies
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Summary: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.
ISSN:1943-2631
0016-6731
1943-2631
DOI:10.1534/genetics.114.167973