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

Gang Wu, Alberto Broniscer, Troy A. McEachron, Charles Lu, Barbara S. Paugh, Jared Becksfort, Chunxu Qu, Li Ding, Robert Huether, Matthew Parker, Junyuan Zhang, Amar Gajjar, Michael A. Dyer, Charles G. Mullighan, Richard J. Gilbertson, Elaine R. Mardis, Richard K. Wilson, James R. Downing, David W. Ellison, Jinghui ZhangSuzanne J. Baker

Research output: Contribution to journalArticlepeer-review

1281 Scopus citations

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.

Original languageEnglish
Pages (from-to)251-253
Number of pages3
JournalNature Genetics
Volume44
Issue number3
DOIs
StatePublished - Mar 2012

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