ArticleGenetics2012
A resolution of the mutation load paradox in humans.
Article in Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Pervasive cryptic selection in the human noncoding genome.bioRxiv : the preprint server for biology · 2026Article
- Extinction vortices are driven more by a shortage of beneficial mutations than by deleterious mutation accumulation.bioRxiv : the preprint server for biology · 2026Article
- Human deleterious mutation rate slows adaptation and implies high fitness variance.bioRxiv : the preprint server for biology · 2025Article
- An estimate of fitness reduction from mutation accumulation in a mammal allows assessment of the consequences of relaxed selection.PLoS biology · 2024Article
- Background Selection From Unlinked Sites Causes Nonindependent Evolution of Deleterious Mutations.Genome biology and evolution · 2024Article
- Deleterious Variation in Natural Populations and Implications for Conservation Genetics.Annual review of animal biosciences · 2023Review
- Factors That Affect the Rates of Adaptive and Nonadaptive Evolution at the Gene Level in Humans and Chimpanzees.Genome biology and evolution · 2022Article
- Mutational Load and the Functional Fraction of the Human Genome.Genome biology and evolution · 2020Article
- Mutation accumulation is still potentially problematic, despite declining paternal age: a comment on ArslanProceedings. Biological sciences · 2018Article
- Relaxed selection and mutation accumulation are best studied empirically: reply to Woodley of MenieProceedings. Biological sciences · 2018Article
- Haldane and modern evolutionary genetics.Journal of genetics · 2017Article
- Negative selection in humans and fruit flies involves synergistic epistasis.Science (New York, N.Y.) · 2017Article
- Joint Prediction of the Effective Population Size and the Rate of Fixation of Deleterious Mutations.Genetics · 2016Article
- Hubby and Lewontin on Protein Variation in Natural Populations: When Molecular Genetics Came to the Rescue of Population Genetics.Genetics · 2016Article
- Mutation and Human Exceptionalism: Our Future Genetic Load.Genetics · 2016Article
- Adaptive Evolution Is Substantially Impeded by Hill-Robertson Interference in Drosophila.Molecular biology and evolution · 2016Article
- Adaptive Protein Evolution in Animals and the Effective Population Size Hypothesis.PLoS genetics · 2016Article
- Quantification of GC-biased gene conversion in the human genome.Genome research · 2015Article
- Germline mutation rates and the long-term phenotypic effects of mutation accumulation in wild-type laboratory mice and mutator mice.Genome research · 2015Article
- Transpositional shuffling and quality control in male germ cells to enhance evolution of complex organisms.Annals of the New York Academy of Sciences · 2015Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.