2024
DOI: 10.1042/bst20231017
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Using human disease mutations to understand de novo DNA methyltransferase function

Willow Rolls,
Marcus D. Wilson,
Duncan Sproul

Abstract: 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 non-catalytic region of the proteins which contain multiple chromatin reading domains responsible for DNMT3A … Show more

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