The DOI matches its Crossref record; 138 of the 138 references it cites were found in a registry or an index.
Somatic Mutagenesis in Mammals and Its Implications for Human Disease and Aging
Open accessAbstract
DNA mutations as a consequence of errors during DNA damage repair, replication, or mitosis are the substrate for evolution. In multicellular organisms, mutations can occur in the germline and also in somatic tissues, where they are associated with cancer and other chronic diseases and possibly with aging. Recent advances in high-throughput sequencing have made it relatively easy to study germline de novo mutations, but in somatic cells, the vast majority of mutations are low-abundant and can be detected only in clonal lineages, such as tumors, or single cells. Here we review recent results on somatic mutations in normal human and animal tissues with a focus on their possible functional consequences.
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“It is well documented that somatic mutations underlie clonal expansion both in malignancy and in non-malignant tissues as a consequence of aging 69 .”
From Vascular smooth muscle cells in atherosclerosis (2019) · cites this paper as [69]
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Vascular smooth muscle cells in atherosclerosis
Basatemur, G. L., Jørgensen, H. F., Clarke, M. C. H., Bennett, M. R., & Mallat, Z. (2019) · Nature Reviews Cardiology · doi:10.1038/s41569-019-0227-9 · Cited by 1,099
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Schumacher, B., Pothof, J., Vijg, J., & Hoeijmakers, J. H. J. (2021) · Nature · doi:10.1038/s41586-021-03307-7 · Cited by 907
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Melzer, D. R., Pilling, L. C., & Ferrucci, L. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-019-0183-6 · Cited by 387
Metadata
- Authors
- Zhang, L., & Vijg, J.
- Affiliations
- Albert Einstein College of Medicine (US)
- Corresponding author
- Vijg, Jan
- ORCID
- Venue
- Annual Review of Genetics
- Publisher
- Annual Reviews
- Published
- 2018-11-23
- Volume
- 52
- Issue
- 1
- Pages
- 397-419
- ISSN
- 0066-4197 (ISSN-L)
- 1545-2948
- PMC
- PMC6414224
- OpenAlex
- W2890388074
- Cited by
- 108
- References
- 137
- Citations by year
- 2026: 7 · 2025: 10 · 2024: 10 · 2023: 12 · 2022: 13 · 2021: 19 · 2020: 17 · 2019: 20
- FWCI
- 1.45
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Annual Review of Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Glenn Foundation for Medical Research
- Fondation pour la Recherche Médicale
- National Institutes of Health (AG038072, AG017242, AG047200)
- National Institute on Aging (P30AG038072, P01AG017242, P01AG047200)
- National Heart, Lung, and Blood Institute (U01HL145560)
- National Cancer Institute (R01CA180126)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Aging › Genetics, Aging, and Longevity in Model Organisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Keywords
- somatic mutagenesis, somatic mutations, DNA repair, DNA replication errors, mitotic errors, clonal lineages, cancer mutations, single-cell sequencing, aging, cancer, chronic disease
- MeSH terms
- Aging, Humans, Mutation, Genome, Human, Mutagenesis, Germ-Line Mutation, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Clonal Evolution
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