Mutation–Selection Balance

Abstract

An organism's genome is continually being altered by mutations, the vast majority of which are harmful to the organism or its descendants, because they reduce the bearer's viability or fertility. Consequently, in every generation, natural selection acts to weed out these deleterious mutations. The opposing processes of mutation and selection balance each other so that the frequency in a population of a deleterious mutation remains at an equilibrium value determined by the strength of selection and the frequency of mutation. The classic model of mutation–selection balance assumes a single biallelic locus under constant selection. In reality, selection and mutation can vary in time and space, loci can have multiple alleles, and the genome comprises many loci. Mutation–selection balance across the genome depends on factors such as linkage, recombination, mating system, epistasis, pleiotropy and the distribution of fitness effects of new mutations. Mutation–selection dynamics also inform genetic variance for quantitative traits under stabilising selection.

Key Concepts:

  • A deleterious mutation at a single locus has an expected equilibrium frequency determined by the rate at which it is produced by mutation, and the rate at which selection removes it from the population.

  • The decrease in population fitness due to the accumulation of deleterious mutations under mutation–selection balance is called mutational load.

  • In finite populations, deleterious mutations can depart from their equilibrium frequency, be lost or go to fixation, all by stochastic drift.

  • Equilibrium expectations under the neutral model of mutation–selection balance provide important null hypotheses for measuring selection in natural populations.

  • Mutation–selection dynamics at multiple loci depend on many factors such as dominance, recombination rate, linkage, epistasis, pleiotropy, mating system and population size.

  • Variation at quantitative genetic traits can also be maintained by a balance between stabilizing selection and mutation.

Keywords: natural selection; mutation; mutational load; population genetics; multiple loci; deleterious and beneficial mutations; genetic variation; evolution

Figure 1.

Equilibrium allele frequency, q̂, as a function of the level of dominance, h, in the standard model of mutation–selection balance. When h=0, the allele is fully recessive; when h=1 it is completely dominant. The other parameter values are s=0.5 and μ=5×10−7. Note the log scale of the y‐axis, which deemphasises the sharp drop in q̂ as h increases from zero.

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Further Reading

Loewe L and Hill WG (2010) The population genetics of mutations: good, bad and indifferent. Philosophical Transactions of the Royal Society B: Biological Sciences 365: 1153–1167.

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How to Cite close
Trotter, Meredith V(Jun 2014) Mutation–Selection Balance. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0001768.pub2]