ArticlePloS one2013
Variation in heterozygosity predicts variation in human substitution rates between populations, individuals and genomic regions.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Long-read transcriptomics of a diverse human cohort reveals ancestry bias in gene annotation.Nature communications · 2025Article
- Correlated and geographically predictable Neanderthal and Denisovan legacies are difficult to reconcile with a simple model based on inter-breeding.Royal Society open science · 2021Article
- Signatures of Introgression across the Allele Frequency Spectrum.Molecular biology and evolution · 2021Article
- Signals interpreted as archaic introgression appear to be driven primarily by faster evolution in Africa.Royal Society open science · 2020Article
- De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Flanking heterozygosity influences the relative probability of different base substitutions in humans.Royal Society open science · 2019Article
- Article
- Direct Determination of the Mutation Rate in the Bumblebee Reveals Evidence for Weak Recombination-Associated Mutation and an Approximate Rate Constancy in Insects.Molecular biology and evolution · 2017Article
- Mutation rate analysis via parent-progeny sequencing of the perennial peach. I. A low rate in woody perennials and a higher mutagenicity in hybrids.Proceedings. Biological sciences · 2016Article
- Heterozygosity increases microsatellite mutation rate.Biology letters · 2016Article
- Inter-allelic interactions play a major role in microsatellite evolution.Proceedings. Biological sciences · 2015Article
- Challenges in analysis and interpretation of microsatellite data for population genetic studies.Ecology and evolution · 2014Review
- Increased substitution rates surrounding low-complexity regions within primate proteins.Genome biology and evolution · 2014Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The "heterozygote instability" (HI) hypothesis suggests that gene conversion events focused on heterozygous sites during meiosis locally increase the mutation rate, but this hypothesis remains largely untested. As humans left Africa they lost variability, which, if HI operates, should have reduced the mutation rate in non-Africans. Relative substitution rates were quantified in diverse humans using aligned whole genome sequences from the 1,000 genomes project. Substitution rate is consistently greater in Africans than in non-Africans, but only in diploid regions of the genome, consistent with a role for heterozygosity. Analysing the same data partitioned into a series of non-overlapping 2 Mb windows reveals a strong, non-linear correlation between the amount of heterozygosity lost "out of Africa" and the difference in substitution rate between Africans and non-Africans. Putative recent mutations, derived variants that occur only once among the 80 human chromosomes sampled, occur preferentially at the centre of 2 Kb windows that have elevated heterozygosity compared both with the same region in a closely related population and with an immediately adjacent region in the same population. More than half of all substitutions appear attributable to variation in heterozygosity. This observation provides strong support for HI with implications for many branches of evolutionary biology.
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