ArticleNature2015
Parent-progeny sequencing indicates higher mutation rates in heterozygotes.
Article in Nature, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 114 papers, 1 of them a synthesis that pooled it.
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Who cites it
114 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A Systematic Review and Developmental Perspective on Origin of CMS Genes in Crops.International journal of molecular sciences · 2024Pooled it
- Genetic diversity and population structure of jute mallow (Corchorus olitorius L.) global collection to guide conservation and breeding.The plant genome · 2026Article
- Sequential origin of an alternative colony founding strategy driven by two supergenes in Temnothorax ants.Molecular biology and evolution · 2026Article
- TCP21 negatively regulates photomorphogenesis by integrating phyB- and HY5-mediated signaling pathways in Arabidopsis.The Plant journal : for cell and molecular biology · 2026Article
- Epigenetic Inhibitor 5-Azacytidine Triggers DIM-2/DIM-5-Dependent Mutagenesis in H3K9me3-Enriched Regions ofJournal of fungi (Basel, Switzerland) · 2026Article
- Meiotic double-strand DNA breaks and spontaneous mutation in Drosophila melanogaster.G3 (Bethesda, Md.) · 2026Article
- Screening of microhaplotypes for paternity testing from low-recombination regions in the human genome.BMC genomics · 2026Article
- Machine learning and multi-omic analysis reveal contrasting recombination landscape of A and C subgenomes of winter oilseed rape.The plant genome · 2026Article
- The tortured past of young polymorphic sex chromosomes revealed through multiplebioRxiv : the preprint server for biology · 2026Article
- KitBase Expanded: An Integrated Genomic and Phenotypic Resource for 3,268 Fast-Neutron-Irradiated Rice Mutants.Database : the journal of biological databases and curation · 2026Article
- Review
- A record-setting mitogenome in the holoparasitic plant Balanophora yakushimensis accompanied by exceptional loss of organellar DNA repair and recombination genes.BMC biology · 2025Article
- Accurate detections of the heterozygous SNPs with rice genomic data and prediction of de novo spontaneous mutation rate.Plant methods · 2025Article
- Evolutionary Consequences of Unusually Large Pericentric TE-rich Regions in the Genome of a Neotropical Fig Wasp.Genome biology and evolution · 2025Article
- Multi-Omic Analysis Reveals Population Differentiation and Signatures of Social Evolution in Tetragonula Stingless Bees.Molecular ecology · 2025Article
- Unexpectedly low recombination rates and presence of hotspots in termite genomes.Genome research · 2025Article
- Hill-Robertson interference may bias the inference of fitness effects of new mutations in highly selfing species.Evolution; international journal of organic evolution · 2025Article
- Diploid aposporous sunflower forms triploid BIII progeny displaying increased apospory levels and non-random genetic mutations.Scientific reports · 2025Article
- Inferring Long-Term and Short-Term Determinants of Genetic Diversity in Honey Bees: Beekeeping Impact and Conservation Strategies.Molecular biology and evolution · 2024Article
- Hybrid adaptation is hampered by Haldane's sieve.Nature communications · 2024Article
54 more citing papers are in PubMed but not listed here.
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8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutation rates vary within genomes, but the causes of this remain unclear. As many prior inferences rely on methods that assume an absence of selection, potentially leading to artefactual results, we call mutation events directly using a parent-offspring sequencing strategy focusing on Arabidopsis and using rice and honey bee for replication. Here we show that mutation rates are higher in heterozygotes and in proximity to crossover events. A correlation between recombination rate and intraspecific diversity is in part owing to a higher mutation rate in domains of high recombination/diversity. Implicating diversity per se as a cause, we find an ∼3.5-fold higher mutation rate in heterozygotes than in homozygotes, with mutations occurring in closer proximity to heterozygous sites than expected by chance. In a genome that is a patchwork of heterozygous and homozygous domains, mutations occur disproportionately more often in the heterozygous domains. If segregating mutations predispose to a higher local mutation rate, clusters of genes dominantly under purifying selection (more commonly homozygous) and under balancing selection (more commonly heterozygous), might have low and high mutation rates, respectively. Our results are consistent with this, there being a ten times higher mutation rate in pathogen resistance genes, expected to be under positive or balancing selection. Consequently, we do not necessarily need to evoke extremely weak selection on the mutation rate to explain why mutational hot and cold spots might correspond to regions under positive/balancing and purifying selection, respectively.
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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.