Article

H3.3 De Novo Mutations Alter Lysine 36 Methylation via Distinct Mechanisms

2025-09-10

Abstract excerpt

Bryant-Li-Bhoj syndrome (BLBS) is caused by de novo mutations on histone H3.3 and is generally characterized by severe neurodevelopmental deficits. Oncogenic H3.3 amino acid substitutions were described over the past decade, but the molecular impact of BLBS mutations remained unstudied. The remarkable number and spread of the missense mutations led us to hypothesize that some converge on the same downstream effect...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6e28ec2e-2b68-59d0-a509-382bafb915bd
DOI: 10.1101/2025.09.09.674984

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

H3.3 De Novo Mutations Alter Lysine 36 Methylation via Distinct MechanismsDOI 10.1101/2025.09.09.674984Read

Inhibition of a K9/K36 demethylase by an H3.3 point mutation found in paediatric glioblastoma.Semantic proximity Read

Recognition of cancer mutations in histone H3K36 by epigenetic writers and readers.Semantic proximity Read

Histone Variant H3.3 Mutations in Defining the Chromatin Function in Mammals.Semantic proximity Read

Histone Variant H3.3: A versatile H3 variant in health and in disease.Semantic proximity Read

Comprehensive structure-function characterization of DNMT3B and DNMT3A reveals distinctive de novo DNA methylation mechanisms.Semantic proximity Read

Using human disease mutations to understand de novo DNA methyltransferase function.Semantic proximity Read

Mediating and maintaining methylation while minimizing mutation: Recent advances on mammalian DNA methyltransferases.Semantic proximity Read

The histone H3.3K36M mutation reprograms the epigenome of chondroblastomas.Semantic proximity Read

Cancer-driving H3G34V/R/D mutations block H3K36 methylation and H3K36me3-MutSα interaction.Semantic proximity Read

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.Semantic proximity Read

Comprehensive structure-function characterization of DNMT3B and DNMT3A reveals distinctive <i>de novo</i> DNA methylation mechanismsSemantic proximity Read

Structural basis for DNMT3A-mediated de novo DNA methylation.Semantic proximity Read