ReviewGenetics2012
Rates and fitness consequences of new mutations in humans.
Review in Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
81 citing papers in PubMed.
- Whole exome sequencing to identify genetic causes of short stature.Hormone research in paediatrics · 2014Trial
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.bioRxiv : the preprint server for biology · 2024Article
- Constraining models of dominance for nonsynonymous mutations in the human genome.PLoS genetics · 2024Article
- Polygenic selection to a changing optimum under self-fertilisation.PLoS genetics · 2024Article
- Effects of urban-induced mutations on ecology, evolution and health.Nature ecology & evolution · 2024Review
- Article
- Using Computational Simulations to Model Deleterious Variation and Genetic Load in Natural Populations.The American naturalist · 2023Review
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.Research square · 2023Article
- Effect of recombination on genetic diversity of Caenorhabditis elegans.Scientific reports · 2023Article
- An empirical evaluation of the estimation of inbreeding depression from molecular markers under suboptimal conditions.Evolutionary applications · 2023Article
- Quantifying the fraction of new mutations that are recessive lethal.Evolution; international journal of organic evolution · 2023Article
- Models based on best-available information support a low inbreeding load and potential for recovery in the vaquita.Heredity · 2023Article
- Genomic Underpinnings of Population Persistence in Isle Royale Moose.Molecular biology and evolution · 2023Article
- Why does the X chromosome lag behind autosomes in GWAS findings?PLoS genetics · 2023Article
- Mechanisms of robustness in gene regulatory networks involved in neural development.Frontiers in molecular neuroscience · 2023Review
- The evolution of personality disorders: A review of proposals.Frontiers in psychiatry · 2023Review
- How much does the unguarded X contribute to sex differences in life span?Evolution letters · 2022Article
- Sexual selection for males with beneficial mutations.Scientific reports · 2022Article
- Accounting for the genetic load in assisted reproductive technology.Clinical and translational medicine · 2022Article
- Recommendations for improving statistical inference in population genomics.PLoS biology · 2022Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
The human mutation rate per nucleotide site per generation (μ) can be estimated from data on mutation rates at loci causing Mendelian genetic disease, by comparing putatively neutrally evolving nucleotide sequences between humans and chimpanzees and by comparing the genome sequences of relatives. Direct estimates from genome sequencing of relatives suggest that μ is about 1.1 × 10(-8), which is about twofold lower than estimates based on the human-chimp divergence. This implies that an average of ~70 new mutations arise in the human diploid genome per generation. Most of these mutations are paternal in origin, but the male:female mutation rate ratio is currently uncertain and might vary even among individuals within a population. On the basis of a method proposed by Kondrashov and Crow, the genome-wide deleterious mutation rate (U) can be estimated from the product of the number of nucleotide sites in the genome, μ, and the mean selective constraint per site. Although the presence of many weakly selected mutations in human noncoding DNA makes this approach somewhat problematic, estimates are U ≈ 2.2 for the whole diploid genome per generation and 0.35 for mutations that change an amino acid of a protein-coding gene. A genome-wide deleterious mutation rate of 2.2 seems higher than humans could tolerate if natural selection is "hard," but could be tolerated if selection acts on relative fitness differences between individuals or if there is synergistic epistasis. I argue that in the foreseeable future, an accumulation of new deleterious mutations is unlikely to lead to a detectable decline in fitness of human populations.
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Registered trials
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.