Somatic Histone H3 Alterations in Paediatric Diffuse Intrinsic Pontine Gliomas and Non-Brainstem Glioblastomas

By Gang Wu, A. Broniscer, T. McEachron, Charles Lu, Barbara S. Paugh, J. Becksfort, Chunxu Qu, Li Ding, R. Huether, Matthew Parker and 11 more. Nature Genetics, 2012

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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.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/e5f4bbc7dc304fc087c62d8e954c278cde46e282

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