ArticlePLoS genetics2011
Evidence for hitchhiking of deleterious mutations within the human genome.
Article in PLoS genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
What it found
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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
53 citing papers in PubMed, 109 citations in OpenAlex.
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- Demographic History, Genetic Load, and the Efficacy of Selection in the Globally Invasive Mosquito Aedes aegypti.Genome biology and evolution · 2025Article
- Estimation of Inbreeding Depression From Overdominant Loci Using Molecular Markers.Evolutionary applications · 2025Article
- Comparison of Recombination Rate, Reference Bias, and Unique Pangenomic Haplotypes inInternational journal of molecular sciences · 2025Article
- Population Genomics Reveals Elevated Inbreeding and Accumulation of Deleterious Mutations in White Raccoon Dogs.Biology · 2025Article
- Adaptive Selection of Cis-regulatory Elements in the Han Chinese.Molecular biology and evolution · 2024Article
- Timesweeper: accurately identifying selective sweeps using population genomic time series.Genetics · 2023Article
- Prioritizing autoimmunity risk variants for functional analyses by fine-mapping mutations under natural selection.Nature communications · 2022Article
- Rare and population-specific functional variation across pig lines.Genetics, selection, evolution : GSE · 2022Article
- Gene Regulatory Evolution in Cold-Adapted Fly Populations Neutralizes Plasticity and May Undermine Genetic Canalization.Genome biology and evolution · 2022Article
- Fitness Effects of Mutations: An Assessment of PROVEAN Predictions Using Mutation Accumulation Data.Genome biology and evolution · 2022Article
- Genome-Wide Estimates of Runs of Homozygosity, Heterozygosity, and Genetic Load in Two Chinese Indigenous Goat Breeds.Frontiers in genetics · 2022Article
- Mistranslation Reduces Mutation Load in Evolving Proteins through Negative Epistasis with DNA Mutations.Molecular biology and evolution · 2021Article
- Article
- Biased Gene Conversion Constrains Adaptation inGenetics · 2020Article
- Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility.PLoS genetics · 2020Article
- Association of the Lactase Persistence Haplotype Block With Disease Risk in Populations of European Descent.Frontiers in genetics · 2020Article
- Genome-wide selection footprints and deleterious variations in young Asian allotetraploid rapeseed.Plant biotechnology journal · 2019Article
- Aneuploidy Enables Cross-Adaptation to Unrelated Drugs.Molecular biology and evolution · 2019Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Deleterious mutations present a significant obstacle to adaptive evolution. Deleterious mutations can inhibit the spread of linked adaptive mutations through a population; conversely, adaptive substitutions can increase the frequency of linked deleterious mutations and even result in their fixation. To assess the impact of adaptive mutations on linked deleterious mutations, we examined the distribution of deleterious and neutral amino acid polymorphism in the human genome. Within genomic regions that show evidence of recent hitchhiking, we find fewer neutral but a similar number of deleterious SNPs compared to other genomic regions. The higher ratio of deleterious to neutral SNPs is consistent with simulated hitchhiking events and implies that positive selection eliminates some deleterious alleles and increases the frequency of others. The distribution of disease-associated alleles is also altered in hitchhiking regions. Disease alleles within hitchhiking regions have been associated with auto-immune disorders, metabolic diseases, cancers, and mental disorders. Our results suggest that positive selection has had a significant impact on deleterious polymorphism and may be partly responsible for the high frequency of certain human disease alleles.
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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.