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

Suzanne Baker and colleagues sequenced the whole genomes of seven pediatric brainstem glioblastomas and matched normal tissue. They found that 78% of diffuse intrinsic pontine gliomas and 22% of non-brainstem pediatric glioblastomas contained a mutation in H3F3A , encoding histone H3.3, or in the re...

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Published in:Nature genetics Vol. 44; no. 3; pp. 251 - 253
Main Authors: 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
Format: Journal Article
Language:English
Published: New York Nature Publishing Group US 01.03.2012
Nature Publishing Group
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ISSN:1061-4036, 1546-1718, 1546-1718
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Summary:Suzanne Baker and colleagues sequenced the whole genomes of seven pediatric brainstem glioblastomas and matched normal tissue. They found that 78% of diffuse intrinsic pontine gliomas and 22% of non-brainstem pediatric glioblastomas contained a mutation in H3F3A , encoding histone H3.3, or in the related HIST1H3B , encoding histone H3.1, causing a p.Lys27Met amino acid substitution in each protein. 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.
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These authors contributed equally to this work
ISSN:1061-4036
1546-1718
1546-1718
DOI:10.1038/ng.1102