The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.
Transcription-associated mutational asymmetry in mammalian evolution
Abstract
Although mutation is commonly thought of as a random process, evolutionary studies show that different types of nucleotide substitution occur with widely varying rates that presumably reflect biases intrinsic to mutation and repair mechanisms. A strand asymmetry, the occurrence of particular substitution types at higher rates than their complementary types, that is associated with DNA replication has been found in bacteria and mitochondria. A strand asymmetry that is associated with transcription and attributable to higher rates of cytosine deamination on the coding strand has been observed in enterobacteria. Here, we describe a qualitatively different transcription-associated strand asymmetry in mammals, which may be a byproduct of transcription-coupled repair in germline cells. This mutational asymmetry has acted over long periods of time to produce a compositional asymmetry, an excess of G+T over A+C on the coding strand, in most genes. The mutational and compositional asymmetries can be used to detect the orientations and approximate extents of transcribed regions.
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“Private Asian and African TCC → T SNPs were found to exhibit the strand bias that is typical of A/C → G/T mutations (28), with the C → T change usually affecting the antisense strand and the G → A change usually affecting the sense strand.”
From Evidence for recent, population-specific evolution of the human mutation rate (2015) · cites this paper as [28]
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Influential
Metadata
- Authors
- Program, N. C. S., Green, P., Ewing, B., Miller, W., Thomas, P. J., & Green, E. D.
- Affiliations
- Howard Hughes Medical Institute (US)
- Pennsylvania State University (US)
- National Institutes of Health (US)
- Corresponding author
- Green, Phil
- ORCID
- Green, Eric D.
- Venue
- Nature Genetics
- Published
- 2003-03-03
- Volume
- 33
- Issue
- 4
- Pages
- 514-517
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2087627409
- Cited by
- 285
- References
- 29
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 5 · 2023: 5 · 2022: 4 · 2021: 12 · 2020: 9 · 2019: 6 · 2018: 5 · 2017: 10 · 2016: 16 · 2015: 15 · 2014: 13 · 2013: 18 · 2012: 18
- FWCI
- 5.89
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health
- National Human Genome Research Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Keywords
- strand asymmetry, cytosine deamination, transcription-coupled repair, germ cells, compositional asymmetry, GC content, DNA replication, mammalian evolution, nucleotide substitution rates
- MeSH terms
- Animals, Chromosomes, Human, Pair 22, DNA Mutational Analysis, Biological Evolution, Humans, Models, Genetic, Papio, RNA, Messenger, Transcription, Genetic, Sequence Analysis, DNA, CpG Islands, Cell Lineage, Databases as Topic
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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