The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Clustered Mutations in Yeast and in Human Cancers Can Arise from Damaged Long Single-Strand DNA Regions
Open accessAbstract
Summary Mutations are typically perceived as random, independent events. We describe here non-random clustered mutations in yeast and in human cancers. Genome sequencing of yeast grown under chronic alkylation damage identified mutation clusters that extend up to 200 kb. A predominance of “strand-coordinated” changes of either cytosines or guanines in the same strand, mutation patterns and genetic controls indicated that simultaneous mutations were generated by base alkylation in abnormally long single-strand (ss)DNA formed at double-strand breaks (DSBs) and replication forks. Significantly, we found mutation clusters with analogous features in sequenced human cancers. Strand-coordinated clusters of mutated cytosines or guanines often resided near chromosome rearrangement breakpoints and were highly enriched with a motif targeted by APOBEC family cytosine-deaminases, which strongly prefer ssDNA. These data indicate that hyper-mutation via multiple simultaneous changes in randomly formed ssDNA is a general phenomenon that may be an important mechanism producing rapid genetic variation.
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Cites
Somatic mutation hotspots correlate with DNA polymerase η error spectrum
Rogozin, I. B., Pavlov, Y. I., Bebenek, K., Matsuda, T., & Kunkel, T. A. (2001) · Nature Immunology · doi:10.1038/88732 · Cited by 298
Ponder, R. G., Fonville, N. C., & Rosenberg, S. M. (2005) · Molecular Cell · doi:10.1016/j.molcel.2005.07.025 · Cited by 257
Human Telomeres Are Hypersensitive to UV-Induced DNA Damage and Refractory to Repair
Rochette, P. J., & Brash, D. E. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000926 · Cited by 133
Cited by
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Lawrence, M. S., Stojanov, P., Polak, P., Kryukov, G. V., Cibulskis, K., Sivachenko, A., Carter, S. L., Stewart, C., Mermel, C. H., Roberts, S. A., et al. (2013) · Nature · doi:10.1038/nature12213 · Cited by 5,461
Self-citationThe repertoire of mutational signatures in human cancer
Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., et al. (2020) · Nature · doi:10.1038/s41586-020-1943-3 · Cited by 3,496
Self-citationPan-cancer analysis of whole genomes
The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., et al. (2020) · Nature · doi:10.1038/s41586-020-1969-6 · Cited by 3,064
Self-citationKosicki, M., Tomberg, K., & Bradley, A. (2018) · Nature Biotechnology · doi:10.1038/nbt.4192 · Cited by 1,883
The landscape of genomic alterations across childhood cancers
ICGC PedBrain-Seq Project, Gröbner, S. N., ICGC MMML-Seq Project, Worst, B. C., Weischenfeldt, J., Buchhalter, I., Kleinheinz, K., Rudneva, V. A., Johann, P. D., Balasubramanian, G. P., et al. (2018) · Nature · doi:10.1038/nature25480 · Cited by 1,572
Metadata
- Authors
- Roberts, S. A., Sterling, J., Thompson, C., Harris, S., Mav, D., Shah, R., Klimczak, L. J., Kryukov, G. V., Malc, E., Mieczkowski, P. A., Resnick, M. A., & Gordenin, D. A.
- Venue
- Molecular Cell
- Publisher
- Elsevier BV
- Published
- 2012-05
- Volume
- 46
- Issue
- 4
- Pages
- 424-435
- ISSN
- 1097-2765 (ISSN-L)
- OpenAlex
- W2064855999
- Cited by
- 412
- References
- 3
- FWCI
- 14.99
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Roberts, S. A., Sterling, J., Thompson, C., Harris, S., Mav, D., Shah, R., Klimczak, L. J., Kryukov, G. V., Malc, E., Mieczkowski, P. A., Resnick, M. A., & Gordenin, D. A. (2012). Clustered Mutations in Yeast and in Human Cancers Can Arise from Damaged Long Single-Strand DNA Regions. Molecular Cell. https://doi.org/10.1016/j.molcel.2012.03.030
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
