ArticleMolecular biology and evolution2009
Targets of balancing selection in the human genome.
Article in Molecular biology and evolution, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 153 papers.
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Who cites it
153 citing papers in PubMed, 285 citations in OpenAlex.
- Genomic insights into natural selection in recent human history.Nature reviews. Genetics · 2026Review
- Allele frequencies at recessive disease genes are mainly determined by pleiotropic effects in heterozygotes.Genetics · 2026Article
- Overdominance for fitness: a genomic comparison between empirical and simulated data with Drosophila melanogaster.Genetics · 2026Article
- Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes.bioRxiv : the preprint server for biology · 2025Article
- Article
- A Balanced Inversion Polymorphism Exhibits a Dominance Reversal at the Gene Expression Level that Depends on Developmental Context.Molecular biology and evolution · 2025Article
- Human-specific gene expansions contribute to brain evolution.bioRxiv : the preprint server for biology · 2025Article
- Neanderthal introgressed ancestry reveals human genomic regions enriched with recessive deleterious mutations.bioRxiv : the preprint server for biology · 2025Article
- Estimation of Inbreeding Depression From Overdominant Loci Using Molecular Markers.Evolutionary applications · 2025Article
- Natural selection and adaptive traits in the Maniq, a nomadic hunter-gatherer society from Mainland Southeast Asia.Scientific reports · 2025Article
- Polymorphism-Aware Models in RevBayes: Species Trees, Disentangling Balancing Selection, and GC-Biased Gene Conversion.Molecular biology and evolution · 2024Article
- Long-term balancing selection for pathogen resistance maintains trans-species polymorphisms in a planktonic crustacean.Nature communications · 2024Article
- Temporal challenges in detecting balancing selection from population genomic data.G3 (Bethesda, Md.) · 2024Article
- Unique footprints of balancing selection in bovine genome.3 Biotech · 2024Article
- The Impact of Patterns in Linkage Disequilibrium and Sequencing Quality on the Imprint of Balancing Selection.Genome biology and evolution · 2024Article
- More evidence for widespread antagonistic pleiotropy in polymorphic disease alleles.Frontiers in genetics · 2024Review
- Genetic variation at innate and adaptive immune genes - contrasting patterns of differentiation and local adaptation in a wild gull.Heredity · 2023Article
- Balancing selection and candidate loci for survival and growth during larval development in the Mediterranean mussel, Mytilus galloprovincialis.G3 (Bethesda, Md.) · 2023Article
- Balancing selection on an MYB transcription factor maintains the twig trichome color variation in Melastoma normale.BMC biology · 2023Article
- Human and pathogen genotype-by-genotype interactions in the light of coevolution theory.PLoS genetics · 2023Review
93 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
12 authors at 5 institutions in 2 countries.
Funding
Abstract
Balancing selection is potentially an important biological force for maintaining advantageous genetic diversity in populations, including variation that is responsible for long-term adaptation to the environment. By serving as a means to maintain genetic variation, it may be particularly relevant to maintaining phenotypic variation in natural populations. Nevertheless, its prevalence and specific targets in the human genome remain largely unknown. We have analyzed the patterns of diversity and divergence of 13,400 genes in two human populations using an unbiased single-nucleotide polymorphism data set, a genome-wide approach, and a method that incorporates demography in neutrality tests. We identified an unbiased catalog of genes with signatures of long-term balancing selection, which includes immunity genes as well as genes encoding keratins and membrane channels; the catalog also shows enrichment in functional categories involved in cellular structure. Patterns are mostly concordant in the two populations, with a small fraction of genes showing population-specific signatures of selection. Power considerations indicate that our findings represent a subset of all targets in the genome, suggesting that although balancing selection may not have an obvious impact on a large proportion of human genes, it is a key force affecting the evolution of a number of genes in humans.
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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.