Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas

Nat Genet. 2012 Jan 29;44(3):251-3. doi: 10.1038/ng.1102.

Abstract

To identify somatic mutations in pediatric diffuse intrinsic pontine glioma (DIPG), we performed whole-genome sequencing of DNA from seven DIPGs and matched germline tissue and targeted sequencing of an additional 43 DIPGs and 36 non-brainstem pediatric glioblastomas (non-BS-PGs). We found that 78% of DIPGs and 22% of non-BS-PGs contained a mutation in H3F3A, encoding histone H3.3, or in the related HIST1H3B, encoding histone H3.1, that caused a p.Lys27Met amino acid substitution in each protein. An additional 14% of non-BS-PGs had somatic mutations in H3F3A causing a p.Gly34Arg alteration.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Brain Stem Neoplasms / genetics*
  • Brain Stem Neoplasms / pathology
  • Genome, Human / genetics
  • Glioblastoma / genetics*
  • Histones / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation, Missense / genetics
  • Pons / pathology*
  • Sequence Analysis, DNA

Substances

  • Histones