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PMID: 23341416 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

A comparison of models to infer the distribution of fitness effects of new mutations.

Genetics ·Vol. 193 ·No. 4 ·2013-04-00 ·Pages 1197-208

Kousathanas A, Keightley PD

Abstract

Knowing the distribution of fitness effects (DFE) of new mutations is important for several topics in evolutionary genetics. Existing computational methods with which to infer the DFE based on DNA polymorphism data have frequently assumed that the DFE can be approximated by a unimodal distribution, such as a lognormal or a gamma distribution. However, if the true DFE departs substantially from the assumed distribution (e.g., if the DFE is multimodal), this could lead to misleading inferences about its properties. We conducted simulations to test the performance of parametric and nonparametric discretized distribution models to infer the properties of the DFE for cases in which the true DFE is unimodal, bimodal, or multimodal. We found that lognormal and gamma distribution models can perform poorly in recovering the properties of the distribution if the true DFE is bimodal or multimodal, whereas discretized distribution models perform better. If there is a sufficient amount of data, the discretized models can detect a multimodal DFE and can accurately infer the mean effect and the average fixation probability of a new deleterious mutation. We fitted several models for the DFE of amino acid-changing mutations using whole-genome polymorphism data from Drosophila melanogaster and the house mouse subspecies Mus musculus castaneus. A lognormal DFE best explains the data for D. melanogaster, whereas we find evidence for a bimodal DFE in M. m. castaneus.

MeSH Terms
Animals Drosophila melanogaster/genetics Gene Frequency Genetic Fitness Genome Mice Models, Genetic Mutation, Missense Polymorphism, Genetic Population/genetics
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Kousathanas Athanasios
Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3JT, United Kingdom. [email protected]
Keightley Peter D
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Article Info
Journal
Genetics
Abbr.
Genetics
ISSN
1943-2631
Published
2013-04-00
Epub
2013-00-22
Pages
1197-208
Language
English
Region
United States
NLM ID
0374636
PMCID
PMC3606097
Subset
IM
Grants
Biotechnology and Biological Sciences Research Council · United Kingdom
Wellcome Trust · United Kingdom
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