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GANG WU; BRONISCER, Alberto; JUNYUAN ZHANG; GAJJAR, Amar; DYER, Michael A; MULLIGHAN, Charles G; GILBERTSON, Richard J; MARDIS, Elaine R; WILSON, Richard K; DOWNING, James R; ELLISON, David W; JINGHUI ZHANG; MCEACHRON, Troy A; BAKER, Suzanne J; LU, Charles; PAUGH, Barbara S; BECKSFORT, Jared; CHUNXU QU; LI DING; HUETHER, Robert; PARKER, Matthew
Nature genetics, 03/2012, Letnik: 44, Številka: 3Journal Article
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.
