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Some species exhibit very high levels of DNA sequence variability; there isalso evidence for the existence of heritable epigenetic variants thatexperience state changes at a much higher rate than sequence variants. In bothcases, the resulting high diversity levels within a population (hyperdiversity)mean that standard population genetics methods are not trustworthy. We analyzea population genetics model that incorporates purifying selection, reversiblemutations and genetic drift, assuming a stationary population size. We deriveanalytical results for both population parameters and sample statistics, anddiscuss their implications for studies of natural genetic and epigeneticvariation. In particular, we find that (1) many more intermediate frequencyvariants are expected than under standard models, even with moderately strongpurifying selection (2) rates of evolution under purifying selection may beclose to, or even exceed, neutral rates. These findings are related toempirical studies of sequence and epigenetic variation.

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