The number of heterozygous nucleotide sites maintained in a finite population due to steady flux of mutations.
@article{Kimura1969TheNO, title={The number of heterozygous nucleotide sites maintained in a finite population due to steady flux of mutations.}, author={M Kimura}, journal={Genetics}, year={1969}, volume={61 4}, pages={ 893-903 } }
N natural populations, it is expected that there is a constant supply of mutaI tions in each generation. These mutations may have different persistence depending on their fitnesses, but collectively, they constitute the ultimate source of genetic variability in the populations. Since the maintenance of genetic variability is an important subject of study in population genetics, it may be worthwhile to investigate, using various models, the effect of mutation on the genetic variability. For…
783 Citations
The amount of DNA polymorphism maintained in a finite population when the neutral mutation rate varies among sites.
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If distribution parameter alpha is small, the effect of rate variation on these quantities are substantial, so that the estimates of theta based on the infinite site model are substantially underestimated, where theta = 4Nv, N is the effective population size and v is the mutation rate per site per generation.
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Observed reductions in molecular variation in low recombination genomic regions of sufficiently large size, for instance in the centromere-proximal regions of Drosophila autosomes or in highly selfing plant populations, may be partly due to background selection against deleterious mutations.
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Quantitative genetic variability maintained by mutation-stabilizing selection balance in finite populations.
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It is argued that the total number of loci capable of influencing most quantitative traits is large, and that the distribution of mutant effects is highly leptokurtic with the effects of most mutants very small, and such mutants are important in contributing to the maintained variance since selection against them is slight.
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The results show that, in a small population, increased recombination can be selected, even in the absence of epistasis or beneficial mutations, and a higher deleterious mutation rate is required for an increase in recombination rate to be favored in haploid populations.
The Amount of Genetic Variation at the DNA Level Maintained in a Finite Population
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If the neutral mutation rate varies among sites substantially, the estimates of θ based on the infinite site model are substantially underestimated, and new methods for estimating θ are presented.
Molecular Evolution in a Multisite Nearly Neutral Mutation Model
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The house-of-cards model was investigated and its behavior was shown to be more sensitive to changes of population size than that of the independent multicodon model, and the relevance of the present model for explaining protein evolution was discussed comparing its prediction and recent DNA data.
Properties of a neutral allele model with intragenic recombination.
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