Article

Disease mutations in the PWWP domain of DNMT3A affect chromatin recruitment through multiple mechanisms

2026-08-31

Abstract excerpt

DNMT3A is a de novo DNA methyltransferase whose recruitment to chromatin regulates its function. Missense mutations within the chromatin-binding PWWP domain are associated with diverse human disorders, yet how mutations in the same domain produce distinct phenotypes remains unclear. Here we systematically characterise 19 clinically reported mutations in the PWWP domain of DNMT3A that are associated with Heyn-Sprou...

Identifiers and source

Literature Corpus work: 88950fb6-634c-5841-b3a1-26b492aa0533
DOI: 10.64898/2026.08.28.747843

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