Language

English

Publication Date

12-1-2022

Journal

Nature Genetics

DOI

10.1038/s41588-022-01205-w

PMID

36471070

PMCID

PMC9742294

PubMedCentral® Posted Date

6-5-2023

PubMedCentral® Full Text Version

Author MSS

Abstract

Canonical (H3.1/H3.2) and noncanonical (H3.3) histone 3 K27M-mutant gliomas have unique spatiotemporal distributions, partner alterations and molecular profiles. The contribution of the cell of origin to these differences has been challenging to uncouple from the oncogenic reprogramming induced by the mutation. Here, we perform an integrated analysis of 116 tumors, including single-cell transcriptome and chromatin accessibility, 3D chromatin architecture and epigenomic profiles, and show that K27M-mutant gliomas faithfully maintain chromatin configuration at developmental genes consistent with anatomically distinct oligodendrocyte precursor cells (OPCs). H3.3K27M thalamic gliomas map to prosomere 2-derived lineages. In turn, H3.1K27M ACVR1-mutant pontine gliomas uniformly mirror early ventral NKX6-1

Keywords

Cell Lineage, Epigenomics, Chromatin, Brain, K27M, EZHIP, OPC, oligodendrocyte development, ACVR1, single cell multiomics, Nkx6-1, Pax3, BMP

Published Open-Access

yes

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