Variation in the mutation rate across mammalian genomes
Abstract
It has been known for many years that the mutation rate varies across the genome. However, only with the advent of large genomic data sets is the full extent of this variation becoming apparent. The mutation rate varies over many different scales, from adjacent sites to whole chromosomes, with the strongest variation seen at the smallest scales. Some of these patterns have clear mechanistic bases, but much of the rate variation remains unexplained, and some of it is deeply perplexing. Variation in the mutation rate has important implications in evolutionary biology and underexplored implications for our understanding of hereditary disease and cancer.
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The background substitution rate is likely not constant across different regions of the genome.
“the background rate is likely not constant across different regions of the genome”
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- Authors
- Hodgkinson, A., & Eyre-Walker, A.
- Affiliations
- University of Sussex (GB)
- Corresponding author
- Hodgkinson, Alan
- ORCID
- Hodgkinson, Alan
- Venue
- Nature Reviews Genetics
- Published
- 2011-10-04
- Volume
- 12
- Issue
- 11
- Pages
- 756-766
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2114632170
- Cited by
- 487
- References
- 10
- Citations by year
- 2026: 21 · 2025: 24 · 2024: 31 · 2023: 37 · 2022: 33 · 2021: 44 · 2020: 30 · 2019: 42 · 2018: 31 · 2017: 31 · 2016: 33 · 2015: 30 · 2014: 45 · 2013: 38 · 2012: 16
- FWCI
- 3.39
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Keywords
- mutation rate variation, mammalian genomes, mutational hotspots, somatic mutations, genetic disorders, cancer, genome evolution
- MeSH terms
- Animals, Humans, Mammals, Sex Chromosomes, CpG Islands, Polymorphism, Single Nucleotide, Mutation Rate
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