ArticleGenome research2007
Biased clustered substitutions in the human genome: the footprints of male-driven biased gene conversion.
Article in Genome research, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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58 citing papers in PubMed, 118 citations in OpenAlex.
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- Transposon-mediated telomere destabilization: a driver of genome evolution in the blast fungus.Nucleic acids research · 2020Article
- GC content of vertebrate exome landscapes reveal areas of accelerated protein evolution.BMC evolutionary biology · 2019Article
- Influence of Recombination and GC-biased Gene Conversion on the Adaptive and Nonadaptive Substitution Rate in Mammals versus Birds.Molecular biology and evolution · 2019Article
- Inferring the Probability of the DerivedGenetics · 2018Article
- S-plot2: Rapid Visual and Statistical Analysis of Genomic Sequences.Evolutionary bioinformatics online · 2018Article
- A mixed relaxed clock model.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2016Article
- The mutation spectrum in genomic late replication domains shapes mammalian GC content.Nucleic acids research · 2016Article
- One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion?Molecular cytogenetics · 2016Article
- Quantification of GC-biased gene conversion in the human genome.Genome research · 2015Article
- Article
- Clusters of Multiple Mutations: Incidence and Molecular Mechanisms.Annual review of genetics · 2015Review
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We examined fixed substitutions in the human lineage since divergence from the common ancestor with the chimpanzee, and determined what fraction are AT to GC (weak-to-strong). Substitutions that are densely clustered on the chromosomes show a remarkable excess of weak-to-strong "biased" substitutions. These unexpected biased clustered substitutions (UBCS) are common near the telomeres of all autosomes but not the sex chromosomes. Regions of extreme bias are enriched for genes. Human and chimp orthologous regions show a striking similarity in the shape and magnitude of their respective UBCS maps, suggesting a relatively stable force leads to clustered bias. The strong and stable signal near telomeres may have participated in the evolution of isochores. One exception to the UBCS pattern found in all autosomes is chromosome 2, which shows a UBCS peak midchromosome, mapping to the fusion site of two ancestral chromosomes. This provides evidence that the fusion occurred as recently as 740,000 years ago and no more than approximately 3 million years ago. No biased clustering was found in SNPs, suggesting that clusters of biased substitutions are selected from mutations. UBCS is strongly correlated with male (and not female) recombination rates, which explains the lack of UBCS signal on chromosome X. These observations support the hypothesis that biased gene conversion (BGC), specifically in the male germline, played a significant role in the evolution of the human genome.
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