Rogozin, Igor B., Goncearenco, Alexander, Lada, Artem G., De, Subhajyoti, Nudelman, German, Panchenko, Anna R., Cooper, David N.  ORCID: https://orcid.org/0000-0002-8943-8484 and Pavlov, Youri I.
2018.
DNA polymerase η mutational signatures are found in a variety of different types of cancer.
Cell Cycle
17
(3)
, pp. 348-355.
10.1080/15384101.2017.1404208
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Abstract
DNA polymerase (pol) η is a specialized error-prone polymerase with at least two quite different and contrasting cellular roles: to mitigate the genetic consequences of solar UV irradiation, and promote somatic hypermutation in the variable regions of immunoglobulin genes. Misregulation and mistargeting of pol η can compromise genome integrity. We explored whether the mutational signature of pol η could be found in datasets of human somatic mutations derived from normal and cancer cells. A substantial excess of single and tandem somatic mutations within known pol η mutable motifs was noted in skin cancer as well as in many other types of human cancer, suggesting that somatic mutations in A:T bases generated by DNA polymerase η are a common feature of tumorigenesis. Another peculiarity of pol ηmutational signatures, mutations in YCG motifs, led us to speculate that error-prone DNA synthesis opposite methylated CpG dinucleotides by misregulated pol η in tumors might constitute an additional mechanism of cytosine demethylation in this hypermutable dinucleotide.
| Item Type: | Article |
|---|---|
| Date Type: | Publication |
| Status: | Published |
| Schools: | Schools > Medicine |
| Publisher: | Taylor & Francis: STM, Behavioural Science and Public Health Titles |
| ISSN: | 1538-4101 |
| Date of First Compliant Deposit: | 7 December 2017 |
| Date of Acceptance: | 15 November 2017 |
| Last Modified: | 21 Nov 2024 12:30 |
| URI: | https://orca.cardiff.ac.uk/id/eprint/107435 |
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