Document Detail


A resolution of the mutation load paradox in humans.
MedLine Citation:
PMID:  22661324     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Current information on the rate of mutation and the fraction of sites in the genome that are subject to selection suggests that each human has received, on average, at least two new harmful mutations from its parents. These mutations were subsequently removed by natural selection through reduced survival or fertility. It has been argued that the mutation load, the proportional reduction in population mean fitness relative to the fitness of an idealized mutation-free individual, allows a theoretical prediction of the proportion of individuals in the population that fail to reproduce as a consequence of these harmful mutations. Application of this theory to humans implies that at least 88% of individuals should fail to reproduce and that each female would need to have more than 16 offspring to maintain population size. This prediction is clearly at odds with the low reproductive excess of human populations. Here, we derive expressions for the fraction of individuals that fail to reproduce as a consequence of recurrent deleterious mutation () for a model in which selection occurs via differences in relative fitness, such as would occur through competition between individuals. We show that is much smaller than the value predicted by comparing fitness to that of a mutation-free genotype. Under the relative fitness model, we show that depends jointly on U and the selective effects of new deleterious mutations and that a species could tolerate 10's or even 100's of new deleterious mutations per genome each generation.
Authors:
Yann Lesecque; Peter D Keightley; Adam Eyre-Walker
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Publication Detail:
Type:  Journal Article     Date:  2012-06-01
Journal Detail:
Title:  Genetics     Volume:  191     ISSN:  1943-2631     ISO Abbreviation:  Genetics     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-08-10     Completed Date:  2012-12-17     Revised Date:  2013-04-16    
Medline Journal Info:
Nlm Unique ID:  0374636     Medline TA:  Genetics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1321-30     Citation Subset:  IM    
Affiliation:
School of Life Sciences, University of Sussex, Brighton BN1 9QG, United Kingdom.
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MeSH Terms
Descriptor/Qualifier:
Algorithms
Computer Simulation
Evolution, Molecular
Female
Genes, Recessive
Genetic Fitness
Genetics, Population
Humans
Male
Models, Genetic*
Mutation*
Mutation Rate
Reproduction / genetics
Selection, Genetic*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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