Article

Convergent DNA Methylation Abnormalities at Bivalent Chromatin in Human Growth Disorders

2025-07-11

Abstract excerpt

Loss-of-function mutations in DNMT3A , a DNA methyltransferase, or NSD1 , a histone methyltransferase, cause overgrowth syndromes. Conversely, disruption of the DNMT3A domain that binds NSD1-deposited H3K36 dimethylation (H3K36me2) results in growth restriction. To investigate the molecular basis of these opposing growth outcomes, we generated isogenic human embryonic stem cells carrying growth syndrome–associat...

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Literature Corpus work: af66626c-177e-53c3-aacf-877e2ecfeb9b
DOI: 10.1101/2025.07.08.663614

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