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Article

Human DNA polymerase ε is a source of C>T mutations at CpG dinucleotides.

Nature genetics - 1 Nov 2024

Tomkova Marketa, McClellan Michael John, Crevel Gilles, Shahid Akbar Muhammed, Mozumdar Nandini, Tomek Jakub, Shepherd Emelie, Cotterill Sue, Schuster-Böckler Benjamin, Kriaucionis Skirmantas

Abstract excerpt

C-to-T transitions in CpG dinucleotides are the most prevalent mutations in human cancers and genetic diseases. These mutations have been attributed to deamination of 5-methylcytosine (5mC), an epigenetic modification found on CpGs. We recently linked CpG>TpG mutations to replication and hypothesized that errors introduced by polymerase ε (Pol ε) may represent an alternative source of mutations. Here we present a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39390083
DOI: 10.1038/s41588-024-01945-x
PMCID: PMC11549043

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