The DOI matches its Crossref record; 82 of the 82 references it cites were found in a registry or an index.
The effects of chromatin organization on variation in mutation rates in the genome
Open accessAbstract
The variation in local rates of mutations can affect both the evolution of genes and their function in normal and cancer cells. Deciphering the molecular determinants of this variation will be aided by the elucidation of distinct types of mutations, as they differ in regional preferences and in associations with genomic features. Chromatin organization contributes to regional variation in mutation rates, but its contribution differs among mutation types. In both germline and somatic mutations, base substitutions are more abundant in regions of closed chromatin, perhaps reflecting error accumulation late in replication. By contrast, a distinctive mutational state with very high levels of insertions and deletions (indels) and substitutions is enriched in regions of open chromatin. These associations indicate an intricate interplay between the nucleotide sequence of DNA and its dynamic packaging into chromatin, and have important implications for current biomedical research. This Review focuses on recent studies showing associations between chromatin state and mutation rates, including pairwise and multivariate investigations of germline and somatic (particularly cancer) mutations.
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Cites
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Cited by
McCormick, R. F., Truong, S. K., Sreedasyam, A., Jenkins, J., Shu, S., Sims, D., Kennedy, M., Amirebrahimi, M., Weers, B. D., McKinley, B., et al. (2018) · The Plant Journal · doi:10.1111/tpj.13781 · Cited by 586
Anticancer drug resistance: An update and perspective
Nussinov, R., Tsai, C.-J., & Jang, H. (2021) · Drug Resistance Updates · doi:10.1016/j.drup.2021.100796 · Cited by 386
Parent-of-origin-specific signatures of de novo mutations
Goldmann, J. M., Wong, W. S. W., Pinelli, M., Farrah, T., Bodian, D., Stittrich, A. B., Glusman, G., Vissers, L. E. L. M., Hoischen, A., Roach, J. C., et al. (2016) · Nature Genetics · doi:10.1038/ng.3597 · Cited by 334
Reconstructing A/B compartments as revealed by Hi-C using long-range correlations in epigenetic data
Fortin, J.-P., & Hansen, K. D. (2015) · Genome Biology · doi:10.1186/s13059-015-0741-y · Cited by 333
Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer
Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., et al. (2020) · Nature Genetics · doi:10.1038/s41588-019-0564-y · Cited by 283
Metadata
- Authors
- Makova, K. D., & Hardison, R. C.
- Venue
- Nature Reviews Genetics
- Published
- 2015-03-03
- Volume
- 16
- Issue
- 4
- Pages
- 213-223
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2021146265
- Cited by
- 253
- References
- 82
- FWCI
- 1.93
- Type
- journal article
- Language
- en
- Open access
- green
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