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

Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas.
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DOI:
10.1038/ng.1102
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发表时间:
2012-01-29
期刊:
影响因子:
30.8
通讯作者:
Baker, Suzanne J.
Baker, Suzanne J.
中科院分区:
生物学1区
文献类型:
--
作者:
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.

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为了鉴定儿科弥漫性内在脑桥胶质瘤(DIPG)中的体细胞突变,我们对7例DIPG和匹配的生殖系DNA进行了全基因组测序,并对另外43例DIPG和36例非脑干儿科胶质母细胞瘤(非BS-PG)进行了靶向测序。78%的DIPG和22%的非BS-PG在编码组蛋白H3.3的H3 F3 A或编码组蛋白H3.1的相关HIST 1H 3B中含有p.K27M突变。另外14%的非BS-PG具有体细胞p.G34R H3 F3 A突变。
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.
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