Mutation-Selection Balance: Ancestry, Load, and Maximum Principle

Physics – Condensed Matter – Statistical Mechanics

Scientific paper

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54 pages, 15 figures; to appear in Theor. Pop. Biol. 61 or 62 (2002)

Scientific paper

We show how concepts from statistical physics, such as order parameter, thermodynamic limit, and quantum phase transition, translate into biological concepts in mutation-selection models for sequence evolution and can be used there. The article takes a biological point of view within a population genetics framework, but contains an appendix for physicists, which makes this correspondence clear. We analyze the equilibrium behavior of deterministic haploid mutation-selection models. Both the forward and the time-reversed evolution processes are considered. The stationary state of the latter is called the ancestral distribution, which turns out as a key for the study of mutation-selection balance. We find that it determines the sensitivity of the equilibrium mean fitness to changes in the fitness values and discuss implications for the evolution of mutational robustness. We further show that the difference between the ancestral and the population mean fitness, termed mutational loss, provides a measure for the sensitivity of the equilibrium mean fitness to changes in the mutation rate. For a class of models in which the number of mutations in an individual is taken as the trait value, and fitness is a function of the trait, we use the ancestor formulation to derive a simple maximum principle, from which the mean and variance of fitness and the trait may be derived; the results are exact for a number of limiting cases, and otherwise yield approximations which are accurate for a wide range of parameters. These results are applied to (error) threshold phenomena caused by the interplay of selection and mutation. They lead to a clarification of concepts, as well as criteria for the existence of thresholds.

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