NDLI: Analysis and implications of mutational variation

Content Provider	Springer Nature Link
Author	Keightley, Peter D. Halligan, Daniel L.
Copyright Year	2008
Abstract	Variation from new mutations is important for several questions in quantitative genetics. Key parameters are the genomic mutation rate and the distribution of effects of mutations (DEM), which determine the amount of new quantitative variation that arises per generation from mutation (V M ). Here, we review methods and empirical results concerning mutation accumulation (MA) experiments that have shed light on properties of mutations affecting quantitative traits. Surprisingly, most data on fitness traits from laboratory assays of MA lines indicate that the DEM is platykurtic in form (i.e., substantially less leptokurtic than an exponential distribution), and imply that most variation is produced by mutations of moderate to large effect. This finding contrasts with results from MA or mutagenesis experiments in which mutational changes to the DNA can be assayed directly, which imply that the vast majority of mutations have very small phenotypic effects, and that the distribution has a leptokurtic form. We compare these findings with recent approaches that attempt to infer the DEM for fitness based on comparing the frequency spectra of segregating nucleotide polymorphisms at putatively neutral and selected sites in population samples. When applied to data for humans and Drosophila, these analyses also indicate that the DEM is strongly leptokurtic. However, by combining the resultant estimates of parameters of the DEM with estimates of the mutation rate per nucleotide, the predicted V M for fitness is only a tiny fraction of V M observed in MA experiments. This discrepancy can be explained if we postulate that a few deleterious mutations of large effect contribute most of the mutational variation observed in MA experiments and that such mutations segregate at very low frequencies in natural populations, and effectively are never seen in population samples.
Starting Page	359
Ending Page	369
Page Count	11
File Format	PDF
ISSN	00166707
Journal	Genetica
Volume Number	136
Issue Number	2
e-ISSN	15736857
Language	English
Publisher	Springer Netherlands
Publisher Date	2008-07-29
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Mutation Quantitative traits Fitness Distribution of effects Microbial Genetics and Genomics Human Genetics Plant Genetics & Genomics Animal Genetics and Genomics Life Sciences
Content Type	Text
Resource Type	Article
Subject	Genetics Plant Science Medicine Animal Science and Zoology Insect Science

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