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

To identify somatic mutations in paediatric diffuse intrinsic pontine gliomas (DIPGs), we performed whole genome sequencing of 7 DIPGs and matched germline DNA, and targeted sequencing of an additional 43 DIPGs and 36 non-brainstem paediatric glioblastomas (non-BS-PGs). 78% of DIPGs and 22% of non-B...

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Detalles Bibliográficos
Autores principales: Wu, Gang, Broniscer, Alberto, McEachron, Troy A, Lu, Charles, Paugh, Barbara S, Becksfort, Jared, Qu, Chunxu, Ding, Li, Huether, Robert, Parker, Matthew, Zhang, Junyuan, Gajjar, Amar, Dyer, Michael A, Mullighan, Charles G, Gilbertson, Richard J, Mardis, Elaine R., Wilson, Richard K., Downing, James R, Ellison, David W, Zhang, Jinghui, Baker, Suzanne J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3288377/
https://www.ncbi.nlm.nih.gov/pubmed/22286216
http://dx.doi.org/10.1038/ng.1102
Descripción
Sumario:To identify somatic mutations in paediatric diffuse intrinsic pontine gliomas (DIPGs), we performed whole genome sequencing of 7 DIPGs and matched germline DNA, and targeted sequencing of an additional 43 DIPGs and 36 non-brainstem paediatric glioblastomas (non-BS-PGs). 78% of DIPGs and 22% of non-BS-PGs contained p.K27M mutation in H3F3A, encoding histone H3.3, or the related HIST1H3B, encoding histone H3.1. An additional 14% of non-BS-PGs had somatic p.G34R H3F3A mutations.