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Journal article

DNA Replication and associated repair pathways are involved in the mutagenesis of methylated cytosine

Abstract:
Transitions of cytosine to thymine in CpG dinucleotides are the most frequent type of mutations observed in cancer. This increased mutability is commonly explained by the presence of 5-methylcytosine (5mC) and its spontaneous hydrolytic deamination into thymine. Here, we describe observations that question whether spontaneous deamination alone causes the elevated mutagenicity of 5mC. Tumours with somatic mutations in DNA mismatch-repair genes or in the proofreading domain of DNA polymerase ε (Pol ε) exhibit more 5mC to T transitions than would be expected, given the kinetics of hydrolytic deamination. This enrichment is asymmetrical around replication origins with a preference for the leading strand template, in particular in methylated cytosines flanked by guanines (GCG). Notably, GCG to GTG mutations also exhibit strand asymmetry in mismatch-repair and Pol ε wild-type tumours. Together, these findings suggest that mis-incorporation of A opposite 5mC during replication of the leading strand might be a contributing factor in the mutagenesis of methylated cytosine.
Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.dnarep.2017.11.005

Authors


More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM; Ludwig Institute
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM; Ludwig Institute
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM; Ludwig Institute
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Oxford Ludwig Institute
Role:
Author


Publisher:
Elsevier
Journal:
DNA Repair More from this journal
Volume:
62
Pages:
1-7
Publication date:
2017-11-24
Acceptance date:
2017-11-21
DOI:
ISSN:
1568-7856


Keywords:
Pubs id:
pubs:798389
UUID:
uuid:ab6b6334-d70b-4b98-a9d7-95da761e011c
Local pid:
pubs:798389
Source identifiers:
798389
Deposit date:
2017-11-28

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