ArticleGenetics2017
The Effect of an Extreme and Prolonged Population Bottleneck on Patterns of Deleterious Variation: Insights from the Greenlandic Inuit.
Article in Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed.
- Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation.Scientific reports · 2021Trial
- Inference of population demographic history captures differing evolutionary signals based on the number of individuals in the dataset.bioRxiv : the preprint server for biology · 2026Article
- Genetic determinants of plasma lipids in Greenlanders.Current opinion in lipidology · 2026Review
- Societal and biological approaches to diabetes prevention and care for Inuit populations: a narrative review.Diabetologia · 2025Review
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- Patterns of population structure and genetic variation within the Saudi Arabian population.bioRxiv : the preprint server for biology · 2025Article
- A reduction in effective population size has not relaxed purifying selection in the human population of Eivissa (Balearic Islands).Scientific reports · 2025Article
- Ethnic differences in CT derived abdominal body composition measures: a comparative retrospect pilot study between European and Inuit study population.International journal of circumpolar health · 2024Article
- Measuring the Efficiency of Purging by non-random Mating in Human Populations.Molecular biology and evolution · 2024Article
- Analysis of admixed Greenlandic siblings shows that the mean genotypic values for metabolic phenotypes differ between Inuit and Europeans.Genome medicine · 2024Article
- The Impact of Recent Demography on Functional Genetic Variation in North African Human Groups.Molecular biology and evolution · 2024Article
- Increased homozygosity due to endogamy results in fitness consequences in a human population.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Genomic signatures of bottleneck and founder effects in dingoes.Ecology and evolution · 2023Article
- Population history modulates the fitness effects of Copy Number Variation in the Roma.Human genetics · 2023Article
- Genomic footprints of bottleneck in landlocked salmon population.Scientific reports · 2023Article
- Deleterious Variation in Natural Populations and Implications for Conservation Genetics.Annual review of animal biosciences · 2023Review
- Genomic Underpinnings of Population Persistence in Isle Royale Moose.Molecular biology and evolution · 2023Article
- A novel splice-affectingThe Lancet regional health. Europe · 2023Article
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8 authors.
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Abstract
The genetic consequences of population bottlenecks on patterns of deleterious genetic variation in human populations are of tremendous interest. Based on exome sequencing of 18 Greenlandic Inuit we show that the Inuit have undergone a severe ∼20,000-year-long bottleneck. This has led to a markedly more extreme distribution of allele frequencies than seen for any other human population tested to date, making the Inuit the perfect population for investigating the effect of a bottleneck on patterns of deleterious variation. When comparing proxies for genetic load that assume an additive effect of deleterious alleles, the Inuit show, at most, a slight increase in load compared to European, East Asian, and African populations. Specifically, we observe <4% increase in the number of derived deleterious alleles in the Inuit. In contrast, proxies for genetic load under a recessive model suggest that the Inuit have a significantly higher load (20% increase or more) compared to other less bottlenecked human populations. Forward simulations under realistic models of demography support our empirical findings, showing up to a 6% increase in the genetic load for the Inuit population across all models of dominance. Further, the Inuit population carries fewer deleterious variants than other human populations, but those that are present tend to be at higher frequency than in other populations. Overall, our results show how recent demographic history has affected patterns of deleterious variants in human populations.
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