ArticlePloS one2011
Variation in human recombination rates and its genetic determinants.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
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Who cites it
74 citing papers in PubMed, 125 citations in OpenAlex.
- Article
- An Increase in Male Recombination Rate With Age in Dairy Cattle Is Heritable and Polygenic.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2026Article
- Mixed Outcomes in Recombination Rates After Domestication: Revisiting Theory and Data.Molecular ecology · 2025Review
- Genetics of recombination rate variation within and between species.Journal of evolutionary biology · 2025Article
- Estimating mutation rate and characterising single nucleotide de novo mutations in pigs.Genetics, selection, evolution : GSE · 2025Article
- The Genetic Architecture of Recombination Rates is Polygenic and Differs Between the Sexes in Wild House Sparrows (Passer domesticus).Molecular biology and evolution · 2024Article
- Down the Penrose stairs, or how selection for fewer recombination hotspots maintains their existence.eLife · 2023Article
- Modeling Recombination Rate as a Quantitative Trait Reveals New Insight into Selection in Humans.Genome biology and evolution · 2023Article
- The regulation of meiotic crossover distribution: a coarse solution to a century-old mystery?Biochemical Society transactions · 2023Review
- The alternative transcription and expression characterization ofFrontiers in genetics · 2023Article
- Recombination rates in pigs differ between breeds, sexes and individuals, and are associated with the RNF212, SYCP2, PRDM7, MEI1 and MSH4 loci.Genetics, selection, evolution : GSE · 2022Article
- Genomic prediction of the recombination rate variation in barley - A route to highly recombinogenic genotypes.Plant biotechnology journal · 2022Article
- High male specific contribution of the X-chromosome to individual global recombination rate in dairy cattle.BMC genomics · 2022Article
- Chromosome architecture and homologous recombination in meiosis.Frontiers in cell and developmental biology · 2022Review
- Genetic variation in recombination rate in the pig.Genetics, selection, evolution : GSE · 2021Article
- Article
- Genetic architecture of individual variation in recombination rate on the X chromosome in cattle.Heredity · 2020Article
- Article
- Molecular evolution of the meiotic recombination pathway in mammals.Evolution; international journal of organic evolution · 2019Article
- A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21.PLoS genetics · 2019Article
14 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundDespite the fundamental role of crossing-over in the pairing and segregation of chromosomes during human meiosis, the rates and placements of events vary markedly among individuals. Characterizing this variation and identifying its determinants are essential steps in our understanding of the human recombination process and its evolution. STUDY DESIGN/
resultsUsing three large sets of European-American pedigrees, we examined variation in five recombination phenotypes that capture distinct aspects of crossing-over patterns. We found that the mean recombination rate in males and females and the historical hotspot usage are significantly heritable and are uncorrelated with one another. We then conducted a genome-wide association study in order to identify loci that influence them. We replicated associations of RNF212 with the mean rate in males and in females as well as the association of Inversion 17q21.31 with the female mean rate. We also replicated the association of PRDM9 with historical hotspot usage, finding that it explains most of the genetic variance in this phenotype. In addition, we identified a set of new candidate regions for further validation. SIGNIFICANCE: These findings suggest that variation at broad and fine scales is largely separable and that, beyond three known loci, there is no evidence for common variation with large effects on recombination phenotypes.
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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.