ArticleAmerican journal of human genetics2014
Biased gene conversion skews allele frequencies in human populations, increasing the disease burden of recessive alleles.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed.
- Why recombination hotspots?PLoS genetics · 2026Review
- Interrogating the Regulatory Function of HAQERs during Human Cortical Development.bioRxiv : the preprint server for biology · 2025Article
- Evolution of GC-biased gene conversion by natural selection.Genetics · 2025Article
- Compensatory Evolution Following Deleterious Episodes of GC-biased Gene Conversion in Rodents.Molecular biology and evolution · 2025Article
- Minimal repeats are ubiquitous sites of crossover and recombination across the human genome.BMC genomics · 2025Article
- Incorporating genetic load contributes to predicting Arabidopsis thaliana's response to climate change.Nature communications · 2025Article
- Novel crossover and recombination hotspots massively spread across primate genomes.Biology direct · 2024Article
- Understanding the Genetic Basis of Variation in Meiotic Recombination: Past, Present, and Future.Molecular biology and evolution · 2024Review
- Increased Positive Selection in Highly Recombining Genes Does not Necessarily Reflect an Evolutionary Advantage of Recombination.Molecular biology and evolution · 2024Article
- Inference of genomic landscapes using ordered Hidden Markov Models with emission densities (oHMMed).BMC bioinformatics · 2024Article
- GC-biased gene conversion drives accelerated evolution of ultraconserved elements in mammalian and avian genomes.Genome research · 2023Article
- Multiple Sources of Uncertainty Confound Inference of Historical Human Generation Times.Molecular biology and evolution · 2023Article
- The effect of mutation subtypes on the allele frequency spectrum and population genetics inference.G3 (Bethesda, Md.) · 2023Article
- Human generation times across the past 250,000 years.Science advances · 2023Article
- Evolutionary dynamics of pseudoautosomal region 1 in humans and great apes.Genome biology · 2022Article
- Analysis of archaic human haplotypes suggests that 5hmC acts as an epigenetic guide for NCO recombination.BMC biology · 2022Article
- Unusual mammalian usage of TGA stop codons reveals that sequence conservation need not imply purifying selection.PLoS biology · 2022Article
- Factors That Affect the Rates of Adaptive and Nonadaptive Evolution at the Gene Level in Humans and Chimpanzees.Genome biology and evolution · 2022Article
- Hotspots of Human Mutation.Trends in genetics : TIG · 2021Review
- Article
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2 authors.
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Abstract
Gene conversion results in the nonreciprocal transfer of genetic information between two recombining sequences, and there is evidence that this process is biased toward G and C alleles. However, the strength of GC-biased gene conversion (gBGC) in human populations and its effects on hereditary disease have yet to be assessed on a genomic scale. Using high-coverage whole-genome sequences of African hunter-gatherers, agricultural populations, and primate outgroups, we quantified the effects of GC-biased gene conversion on population genomic data sets. We find that genetic distances (FST and population branch statistics) are modified by gBGC. In addition, the site frequency spectrum is left-shifted when ancestral alleles are favored by gBGC and right-shifted when derived alleles are favored by gBGC. Allele frequency shifts due to gBGC mimic the effects of natural selection. As expected, these effects are strongest in high-recombination regions of the human genome. By comparing the relative rates of fixation of unbiased and biased sites, the strength of gene conversion was estimated to be on the order of Nb ≈ 0.05 to 0.09. We also find that derived alleles favored by gBGC are much more likely to be homozygous than derived alleles at unbiased SNPs (+42.2% to 62.8%). This results in a curse of the converted, whereby gBGC causes substantial increases in hereditary disease risks. Taken together, our findings reveal that GC-biased gene conversion has important population genetic and public health implications.
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