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Article

Convergent DNA methylation abnormalities at enhancers and bivalent promoters in human growth disorders.

Epigenetics & chromatin - 27 Dec 2025

Wheeler Marie E S, Takahashi Yoshiko, Lee Jihye, Perez Camille T, Chen Xiaoting, Lee Yuri, Pope Zachary S, Lu Daniella J, Seldin Marcus, Marazzi Ivan, Yun Hongseok, Weirauch Matthew T, Byun Minji

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-associated...

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Share to DNA (Cytosine-5-)-Methyltransferases
Share to DNA Methyltransferase 3A

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Enhancer Elements, Genetic

Share to Growth Disorders

Share to Histone-Lysine N-Methyltransferase

Share to Histones

Share to Human Embryonic Stem Cells

Share to Intracellular Signaling Peptides and Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 41456056
DOI: 10.1186/s13072-025-00650-1
PMCID: PMC12853687

Genes

DNMT3A
NSD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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