ArticleGenome biology and evolution2011
Ongoing GC-biased evolution is widespread in the human genome and enriched near recombination hot spots.
Article in Genome biology and evolution, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 61 citations in OpenAlex.
- Article
- A genomic timescale for placental mammal evolution.Science (New York, N.Y.) · 2023Article
- Chromosome-wide characterization of meiotic noncrossovers (gene conversions) in mouse hybrids.Genetics · 2021Article
- Runaway GC Evolution in Gerbil Genomes.Molecular biology and evolution · 2020Article
- Quantifying GC-Biased Gene Conversion in Great Ape Genomes Using Polymorphism-Aware Models.Genetics · 2019Article
- The Role of Phylogenetically Conserved Elements in Shaping Patterns of Human Genomic Diversity.Molecular biology and evolution · 2018Article
- Article
- 1000 human genomes carry widespread signatures of GC biased gene conversion.BMC genomics · 2018Article
- Large scale variation in the rate of germ-line de novo mutation, base composition, divergence and diversity in humans.PLoS genetics · 2018Article
- Mechanistically Distinct Pathways of Divergent Regulatory DNA Creation Contribute to Evolution of Human-Specific Genomic Regulatory Networks Driving Phenotypic Divergence of Homo sapiens.Genome biology and evolution · 2016Article
- The mutation spectrum in genomic late replication domains shapes mammalian GC content.Nucleic acids research · 2016Article
- The evolution of the human genome.Current opinion in genetics & development · 2015Review
- Quantification of GC-biased gene conversion in the human genome.Genome research · 2015Article
- Biased gene conversion and GC-content evolution in the coding sequences of reptiles and vertebrates.Genome biology and evolution · 2014Article
- The bimodal distribution of genic GC content is ancestral to monocot species.Genome biology and evolution · 2014Article
- Biased gene conversion skews allele frequencies in human populations, increasing the disease burden of recessive alleles.American journal of human genetics · 2014Article
- Recombination in the human Pseudoautosomal region PAR1.PLoS genetics · 2014Article
- LDsplit: screening for cis-regulatory motifs stimulating meiotic recombination hotspots by analysis of DNA sequence polymorphisms.BMC bioinformatics · 2014Article
- Transmission distortion affecting human noncrossover but not crossover recombination: a hidden source of meiotic drive.PLoS genetics · 2014Article
- Strong heterogeneity in mutation rate causes misleading hallmarks of natural selection on indel mutations in the human genome.Molecular biology and evolution · 2014Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Fast evolving regions of many metazoan genomes show a bias toward substitutions that change weak (A,T) into strong (G,C) base pairs. Single-nucleotide polymorphisms (SNPs) do not share this pattern, suggesting that it results from biased fixation rather than biased mutation. Supporting this hypothesis, analyses of polymorphism in specific regions of the human genome have identified a positive correlation between weak to strong (W→S) SNPs and derived allele frequency (DAF), suggesting that SNPs become increasingly GC biased over time, especially in regions of high recombination. Using polymorphism data generated by the 1000 Genomes Project from 179 individuals from 4 human populations, we evaluated the extent and distribution of ongoing GC-biased evolution in the human genome. We quantified GC fixation bias by comparing the DAFs of W→S mutations and S→W mutations using a Mann-Whitney U test. Genome-wide, W→S SNPs have significantly higher DAFs than S→W SNPs. This pattern is widespread across the human genome but varies in magnitude along the chromosomes. We found extreme GC-biased evolution in neighborhoods of recombination hot spots, a significant correlation between GC bias and recombination rate, and an inverse correlation between GC bias and chromosome arm length. These findings demonstrate the presence of ongoing fixation bias favoring G and C alleles throughout the human genome and suggest that the bias is caused by a recombination-associated process, such as GC-biased gene conversion.
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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.