ArticleMolecular biology and evolution2012
The role of GC-biased gene conversion in shaping the fastest evolving regions of the human genome.
Article in Molecular biology and evolution, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 1 of them a synthesis that pooled it.
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65 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genomic and network patterns of schizophrenia genetic variation in human evolutionary accelerated regions.Molecular biology and evolution · 2015Pooled it
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- Interrogating the Regulatory Function of HAQERs during Human Cortical Development.bioRxiv : the preprint server for biology · 2025Article
- Comparative genomics sheds light on mammalian and avian gene regulation and phenotypic evolution.Nature communications · 2025Article
- Evolution of GC-biased gene conversion by natural selection.Genetics · 2025Article
- Decoding DNA sequence-driven evolution of the human brain epigenome at cellular resolution.Nature communications · 2025Article
- The CpG Landscape of Protein Coding DNA in Vertebrates.Evolutionary applications · 2025Article
- Complete human recombination maps.Nature · 2025Article
- Convergent evolution of noncoding elements associated with short tarsus length in birds.BMC biology · 2025Article
- Understanding the Emergence of Schizophrenia in the Light of Human Evolution: New Perspectives in Genetics.Genes, brain, and behavior · 2025Review
- The Human Accelerated Region HAR202 Controls NPAS3 Expression in the Developing Forebrain Displaying Differential Enhancer Activity Between Modern and Archaic Human Sequences.Molecular biology and evolution · 2024Article
- Accelerated evolution in the human lineage led to gain and loss of transcriptional enhancers in theScience advances · 2024Article
- Increased Positive Selection in Highly Recombining Genes Does not Necessarily Reflect an Evolutionary Advantage of Recombination.Molecular biology and evolution · 2024Article
- GC Content Across Insect Genomes: Phylogenetic Patterns, Causes and Consequences.Journal of molecular evolution · 2024Article
- GC-biased gene conversion drives accelerated evolution of ultraconserved elements in mammalian and avian genomes.Genome research · 2023Article
- The genomic basis of temporal niche evolution in a diurnal rodent.Current biology : CB · 2023Article
- Three-dimensional genome rewiring in loci with human accelerated regions.Science (New York, N.Y.) · 2023Article
- Evolutionary constraint and innovation across hundreds of placental mammals.Science (New York, N.Y.) · 2023Article
- The effect of mutation subtypes on the allele frequency spectrum and population genetics inference.G3 (Bethesda, Md.) · 2023Article
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5 more citing papers are in PubMed but not listed here.
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Abstract
GC-biased gene conversion (gBGC) is a recombination-associated evolutionary process that accelerates the fixation of guanine or cytosine alleles, regardless of their effects on fitness. gBGC can increase the overall rate of substitutions, a hallmark of positive selection. Many fast-evolving genes and noncoding sequences in the human genome have GC-biased substitution patterns, suggesting that gBGC-in contrast to adaptive processes-may have driven the human changes in these sequences. To investigate this hypothesis, we developed a substitution model for DNA sequence evolution that quantifies the nonlinear interacting effects of selection and gBGC on substitution rates and patterns. Based on this model, we used a series of lineage-specific likelihood ratio tests to evaluate sequence alignments for evidence of changes in mode of selection, action of gBGC, or both. With a false positive rate of less than 5% for individual tests, we found that the majority (76%) of previously identified human accelerated regions are best explained without gBGC, whereas a substantial minority (19%) are best explained by the action of gBGC alone. Further, more than half (55%) have substitution rates that significantly exceed local estimates of the neutral rate, suggesting that these regions may have been shaped by positive selection rather than by relaxation of constraint. By distinguishing the effects of gBGC, relaxation of constraint, and positive selection we provide an integrated analysis of the evolutionary forces that shaped the fastest evolving regions of the human genome, which facilitates the design of targeted functional studies of adaptation in humans.
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