ReviewCurrent opinion in genetics & development2016
The impact of recent population history on the deleterious mutation load in humans and close evolutionary relatives.
Review in Current opinion in genetics & development, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 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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Who cites it
66 citing papers in PubMed.
- Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation.Scientific reports · 2021Trial
- Article
- Historically Small Population Size Limits Purging of Deleterious Mutations in a Conservation-Reliant Species, the Kirtland's Warbler.bioRxiv : the preprint server for biology · 2026Article
- Contemporary hybridization among Arabis floodplain species creates opportunities for adaptation.The New phytologist · 2026Article
- Inference of complex demographic history using composite likelihood based on whole-genome genealogies.bioRxiv : the preprint server for biology · 2025Article
- Whole-genome duplication increases genetic diversity and load in outcrossingProceedings of the National Academy of Sciences of the United States of America · 2025Article
- An Extension of Muller's Sheltering Hypothesis for the Evolution of Sex Chromosome Gene Content.Molecular biology and evolution · 2025Article
- The distribution of highly deleterious variants across human ancestry groups.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- The landscape of fitness effects of putatively functional noncoding mutations in humans.bioRxiv : the preprint server for biology · 2025Article
- Sexual selection, genomic evolution and population fitness inProceedings. Biological sciences · 2025Article
- Incorporating genetic load contributes to predicting Arabidopsis thaliana's response to climate change.Nature communications · 2025Article
- Genomes of Galápagos Mockingbirds Reveal the Impact of Island Size and Past Demography on Inbreeding and Genetic Load in Contemporary Populations.Molecular ecology · 2025Article
- The role of complement factor I rare genetic variants in age related macular degeneration in Finland.Human molecular genetics · 2025Article
- Patterns of population structure and genetic variation within the Saudi Arabian population.bioRxiv : the preprint server for biology · 2025Article
- Rapid Parallel Adaptation in Distinct Invasions of Ambrosia Artemisiifolia Is Driven by Large-Effect Structural Variants.Molecular biology and evolution · 2025Article
- A reduction in effective population size has not relaxed purifying selection in the human population of Eivissa (Balearic Islands).Scientific reports · 2025Article
- Mitochondrial DNA Genomes Reveal Relaxed Purifying Selection During Human Population Expansion after the Last Glacial Maximum.Molecular biology and evolution · 2024Article
- Constraining models of dominance for nonsynonymous mutations in the human genome.PLoS genetics · 2024Article
- Measuring the Efficiency of Purging by non-random Mating in Human Populations.Molecular biology and evolution · 2024Article
- A quantitative genetic model of background selection in humans.PLoS genetics · 2024Article
6 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
2 authors.
Funding
Abstract
Over the past decade, there has been both great interest and confusion about whether recent demographic events-notably the Out-of-Africa-bottleneck and recent population growth-have led to differences in mutation load among human populations. The confusion can be traced to the use of different summary statistics to measure load, which lead to apparently conflicting results. We argue, however, that when statistics more directly related to load are used, the results of different studies and data sets consistently reveal little or no difference in the load of non-synonymous mutations among human populations. Theory helps to understand why no such differences are seen, as well as to predict in what settings they are to be expected. In particular, as predicted by modeling, there is evidence for changes in the load of recessive loss of function mutations in founder and inbred human populations. Also as predicted, eastern subspecies of gorilla, Neanderthals and Denisovans, who are thought to have undergone reductions in population sizes that exceed the human Out-of-Africa bottleneck in duration and severity, show evidence for increased load of non-synonymous mutations (relative to western subspecies of gorillas and modern humans, respectively). A coherent picture is thus starting to emerge about the effects of demographic history on the mutation load in populations of humans and close evolutionary relatives.
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