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Article

Using human disease mutations to understand de novo DNA methyltransferase function.

Biochemical Society transactions - 30 Oct 2024

Rolls Willow, Wilson Marcus D, Sproul Duncan

Abstract excerpt

DNA methylation is a repressive epigenetic mark that is pervasive in mammalian genomes. It is deposited by DNA methyltransferase enzymes (DNMTs) that are canonically classified as having de novo (DNMT3A and DNMT3B) or maintenance (DNMT1) function. Mutations in DNMT3A and DNMT3B cause rare Mendelian diseases in humans and are cancer drivers. Mammalian DNMT3 methyltransferase activity is regulated by the...

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Identifiers

PMID: 39446312
DOI: 10.1042/BST20231017
PMCID: PMC11555716

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