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On the persistence and pervasiveness of a new mutation. | LitMetric

On the persistence and pervasiveness of a new mutation.

Evolution

Departamento de Genética, Facultad de Ciencias Biológicas, Universidad Complutense, 28040 Madrid, Spain.

Published: November 2003

AI Article Synopsis

  • It is commonly believed that the persistence and pervasiveness of harmful mutations are the same, but this is only true in a simple model and not universally applicable.
  • When the selective disadvantage (hs) is significantly higher than the effective population size (N(e)), the impact of homozygous mutants can be ignored, leading to a simpler formula for estimating pervasiveness as 1/hs.
  • For neutral mutations, while the expected number of heterozygotes before fixation or loss is generally 2N(e), the expected number of generations until this occurs is considerably lower, indicating that the time until fixation or loss is shorter than the number of individuals involved.

Article Abstract

It has frequently been assumed that the persistence of a deleterious mutation (the average number of generations before its loss) and its pervasiveness (the average number of individuals carrying the gene before its loss) are equal. This is true for a particular simple, widely used infinite model, but this agreement is not general. If hs >> 1/(4N(e)), where hs is the selective disadvantage of mutant heterozygotes and N(e) is the effective population number, the contribution of homozygous mutants can be neglected and the simple approximate formula 1/hs gives the mean pervasiveness. But the expected persistence is usually much smaller, 2(log(e)(1/2hs) + 1 - gamma) where gamma = 0.5772. For neutral mutations, the total number of heterozygotes until fixation or loss is often the quantity of interest, and its expected value is 2N(e), with remarkable generality for various population structures. In contrast, the number of generations until fixation or loss, 2(N(e)/N)(1 + log(e)2N), is much smaller than the total number of heterozygotes. In general the number of generations is less than the number of individuals.

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Source
http://dx.doi.org/10.1111/j.0014-3820.2003.tb01507.xDOI Listing

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