Alternative Mechanisms of Mutagenesis at mCpG Sites during Replication and Repair

5-Methyl-2'-deoxycytidine (mC) at CpG sites plays a key role in the epigenetic gene regulation, cell differentiation, and carcinogenesis. Despite the importance of mC for normal cell function, CpG dinucleotides are known as mutagenesis hotspots. Deamination of mC yields T, causing C→T transitio...

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Veröffentlicht in:Molecular biology (New York) 2023-08, Vol.57 (4), p.584-592
Hauptverfasser: Shilkin, E. S., Petrova, D. V., Zharkov, D. O., Makarova, A. V.
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Petrova, D. V.
Zharkov, D. O.
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description 5-Methyl-2'-deoxycytidine (mC) at CpG sites plays a key role in the epigenetic gene regulation, cell differentiation, and carcinogenesis. Despite the importance of mC for normal cell function, CpG dinucleotides are known as mutagenesis hotspots. Deamination of mC yields T, causing C→T transitions. However, several recent studies demonstrated the effect of epigenetic modifications of C on the fidelity and efficiency of DNA polymerases and excision repair enzymes. The review summarizes the available data that indicate the existence of deamination-independent mechanisms of mutagenesis at CpG sites.
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subjects Biochemistry
Biomedical and Life Sciences
Carcinogenesis
Cell differentiation
CpG islands
Deamination
DNA repair
DNA-directed DNA polymerase
Epigenetics
Gene regulation
Human Genetics
Life Sciences
Mutagenesis
Reviews
title Alternative Mechanisms of Mutagenesis at mCpG Sites during Replication and Repair
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