Wednesday, January 17, 2007

Direct mutation rate estimation

In this paper, they find that the mutation rate that they are able to directly observe is several times higher than previous indiret estimates. The authors then remark that "selection against deleterious mutations may have a key role in explaining patterns of genetic variation in the genome, and help to maintain recombination and sexual reproduction."
This makes me think of the patterns of varaition in a gene like MC1R, where in Africa there must have been strong selection against any deleterious mutations, and as soon as the selection environment changed (Eurasia) all kinds of deleterious mutations pop up and are selected for.

Direct estimation of per nucleotide and genomic deleterious mutation rates in Drosophila

Nature 445, 82-85 (4 January 2007)

Cathy Haag-Liautard, Mark Dorris, Xulio Maside, Steven Macaskill, Daniel L. Halligan, Brian Charlesworth and Peter D. Keightley

Abstract: Spontaneous mutations are the source of genetic variation required for evolutionary change, and are therefore important for many aspects of evolutionary biology. For example, the divergence between taxa at neutrally evolving sites in the genome is proportional to the per nucleotide mutation rate, u (ref. 1), and this can be used to date speciation events by assuming a molecular clock. The overall rate of occurrence of deleterious mutations in the genome each generation (U) appears in theories of nucleotide divergence and polymorphism2, the evolution of sex and recombination3, and the evolutionary consequences of inbreeding2. However, estimates of U based on changes in allozymes4 or DNA sequences5 and fitness traits are discordant6, 7, 8. Here we directly estimate u in Drosophila melanogaster by scanning 20 million bases of DNA from three sets of mutation accumulation lines by using denaturing high-performance liquid chromatography9. From 37 mutation events that we detected, we obtained a mean estimate for u of 8.4 10-9 per generation. Moreover, we detected significant heterogeneity in u among the three mutation-accumulation-line genotypes. By multiplying u by an estimate of the fraction of mutations that are deleterious in natural populations of Drosophila10, we estimate that U is 1.2 per diploid genome. This high rate suggests that selection against deleterious mutations may have a key role in explaining patterns of genetic variation in the genome, and help to maintain recombination and sexual reproduction.

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