ArticleScience (New York, N.Y.)2017
Negative selection in humans and fruit flies involves synergistic epistasis.
Article in Science (New York, N.Y.), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed.
- Correlations between causal effect sizes of proximal SNPs vary with functional annotations and implicate stabilizing selection.Nature genetics · 2026Article
- Background selection in recombining genomes and its consequences for the maintenance of variation in complex traits.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Extinction vortices are driven more by a shortage of beneficial mutations than by deleterious mutation accumulation.bioRxiv : the preprint server for biology · 2026Article
- A gene-based model of fitness and its implications for genetic variation: linkage disequilibrium.Genetics · 2025Article
- Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.Nature communications · 2025Article
- A gene-based model of fitness and its implications for genetic variation: Linkage disequilibrium.bioRxiv : the preprint server for biology · 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
- Article
- Linkage equilibrium between rare mutations.Genetics · 2024Article
- Pleiotropy, epistasis and the genetic architecture of quantitative traits.Nature reviews. Genetics · 2024Review
- Linkage equilibrium between rare mutations.bioRxiv : the preprint server for biology · 2024Article
- Background Selection From Unlinked Sites Causes Nonindependent Evolution of Deleterious Mutations.Genome biology and evolution · 2024Article
- Validity of Xiphophorus fish as models for human disease.Disease models & mechanisms · 2024Review
- Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection.Research square · 2023Article
- Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection.medRxiv : the preprint server for health sciences · 2023Article
- Two Forms of Sexual Dimorphism in Gene Expression in Drosophila melanogaster: Their Coincidence and Evolutionary Genetics.Molecular biology and evolution · 2023Article
- Detection of Selection Signatures in Anqing Six-End-White Pigs Based on Resequencing Data.Genes · 2022Article
- Local fitness and epistatic effects lead to distinct patterns of linkage disequilibrium in protein-coding genes.Genetics · 2022Article
- Article
- Linkage disequilibrium between rare mutations.Genetics · 2022Article
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13 authors.
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Abstract
Negative selection against deleterious alleles produced by mutation influences within-population variation as the most pervasive form of natural selection. However, it is not known whether deleterious alleles affect fitness independently, so that cumulative fitness loss depends exponentially on the number of deleterious alleles, or synergistically, so that each additional deleterious allele results in a larger decrease in relative fitness. Negative selection with synergistic epistasis should produce negative linkage disequilibrium between deleterious alleles and, therefore, an underdispersed distribution of the number of deleterious alleles in the genome. Indeed, we detected underdispersion of the number of rare loss-of-function alleles in eight independent data sets from human and fly populations. Thus, selection against rare protein-disrupting alleles is characterized by synergistic epistasis, which may explain how human and fly populations persist despite high genomic mutation rates.
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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.