Epigenetics & chromatinHumansDNA MethylationDNA Methyltransferase 3APromoter RegionsGenetic
Convergent DNA methylation abnormalities at enhancers and bivalent promoters in human growth disorders.
Marie E S Wheeler, Yoshiko Takahashi, Jihye Lee, Camille T Perez, Xiaoting Chen, Yuri Lee, Zachary S Pope, Daniella J Lu, Marcus Seldin, Ivan Marazzi, Hongseok Yun, Matthew T Weirauch, Minji Byun
Published: 202510.1186/s13072-025-00650-1
Abstract
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 re…
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