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

Genetics
Brian Charlesworth, Kavita Jain

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.

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May 13, 2015·Proceedings of the National Academy of Sciences of the United States of America·Adriaan van der GraafFrank Johannes
May 10, 2016·Nature Reviews. Genetics·Aaron TaudtFrank Johannes
Jun 27, 2014·PLoS Genetics·Margie KinnersleyFrank Rosenzweig
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Jun 2, 2017·Proceedings. Biological Sciences·Deborah CharlesworthBrian Charlesworth

Related Concepts

Genetics, Population
Selection, Genetic
Evolution, Molecular
Evolution, Neutral
Biological Evolution
DNA Sequence
Size
Experience
Empirical Study
Genetic Drift

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