Authors:
G Wu, A Broniscer, TA McEachron, C Lu, BS Paugh, J Becksfort, C Qu, L Ding, R Huether, M Parker, J Zhang, A Gajjar, MA Dyer, CG Mullighan, RJ Gilbertson, ER Mardis, RK Wilson, JR Downing, DW Ellison, J Zhang, SJ Baker, St. Jude Children's Research Hospital–Washington University Pediatric Cancer Genome Project
Journal name: 
Nat Genet
Citation info: 
44(3):251-253
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.
DOI: 
http://doi.org/10.1038/ng.1102
Research group: 
Gilbertson Group
E-pub date: 
29 Jan 2012