ArticleGenome research2002
Deterministic mutation rate variation in the human genome.
Article in Genome research, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed.
- Comparative structure and evolution of the organellar genomes of Padina usoehtunii (Dictyotales) with the brown algal crown radiation clade.BMC genomics · 2024Article
- Genetic characterization and phylogenetic analysis of the Nigella sativa (black seed) plastome.Scientific reports · 2024Article
- The effect of mutation subtypes on the allele frequency spectrum and population genetics inference.G3 (Bethesda, Md.) · 2023Article
- Why Do Some Vertebrates Have Microchromosomes?Cells · 2021Review
- Small RNAs, Big Diseases.International journal of molecular sciences · 2020Review
- Mutational Landscape of Spontaneous Base Substitutions and Small Indels in ExperimentalGenetics · 2019Article
- Cooperation between non-essential DNA polymerases contributes to genome stability in Saccharomyces cerevisiae.DNA repair · 2019Article
- Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.International journal of molecular sciences · 2018Review
- Comparative Analysis of Complete Chloroplast Genomes ofFrontiers in plant science · 2018Article
- Identification of novel prostate cancer drivers using RegNetDriver: a framework for integration of genetic and epigenetic alterations with tissue-specific regulatory network.Genome biology · 2017Article
- Spontaneous Mutation Rate in the Smallest Photosynthetic Eukaryotes.Molecular biology and evolution · 2017Article
- Variable Autosomal and X Divergence Near and Far from Genes Affects Estimates of Male Mutation Bias in Great Apes.Genome biology and evolution · 2016Article
- Preferential Protection of Genetic Fidelity within Open Chromatin by the Mismatch Repair Machinery.The Journal of biological chemistry · 2016Article
- Determining the Effect of Natural Selection on Linked Neutral Divergence across Species.PLoS genetics · 2016Article
- The mutation spectrum in genomic late replication domains shapes mammalian GC content.Nucleic acids research · 2016Article
- Phen-Gen: combining phenotype and genotype to analyze rare disorders.Nature methods · 2014Article
- The influence of genomic context on mutation patterns in the human genome inferred from rare variants.Genome research · 2013Article
- Comparative analysis of context-dependent mutagenesis using human and mouse models.BioMed research international · 2013Article
- Article
- Distinct contributions of replication and transcription to mutation rate variation of human genomes.Genomics, proteomics & bioinformatics · 2012Article
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Several studies of substitution rate variation have indicated that the local mutation rate varies over the mammalian genome. In the present study, we show significant variation in substitution rates within the noncoding part of the human genome using 4.7 Mb of human-chimpanzee pairwise comparisons. Moreover, we find a significant positive covariation of lineage-specific chimpanzee and human local substitution rates, and very similar mean substitution rates down the two lineages. The substitution rate variation is probably not caused by selection or biased gene conversion, and so we conclude that mutation rates vary deterministically across the noncoding nonrepetitive regions of the human genome. We also show that noncoding substitution rates are significantly affected by G+C base composition, partly because the base composition is not at equilibrium.
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