儿童脑肿瘤中的组蛋白 H3 突变。
Histone H3 mutations in pediatric brain tumors.
机构信息
McGill University, Montreal, Quebec H3A 0G4, Canada.
出版信息
Cold Spring Harb Perspect Biol. 2014 Apr 1;6(4):a018689. doi: 10.1101/cshperspect.a018689.
Abstract
Until recently, mutations in histones had not been described in any human disease. However, genome-wide sequencing of pediatric high-grade gliomas revealed somatic heterozygous mutations in the genes encoding histones H3.1 and H3.3, as well as mutations in the chromatin modifiers ATRX and DAXX. The functional significance and mechanistic details of how these mutations affect the tumors is currently under intensive investigation. The information gained from these studies will shed new light on normal brain development as well as increase our understanding of the tumorigenic processes that drive pediatric high-grade gliomas.
摘要
直到最近，人类疾病中还没有描述组蛋白突变。然而，对儿科高级别神经胶质瘤的全基因组测序显示，编码组蛋白 H3.1 和 H3.3 的基因突变，以及染色质修饰物 ATRX 和 DAXX 的突变。这些突变如何影响肿瘤的功能意义和机制细节目前正在深入研究中。这些研究获得的信息将为正常大脑发育提供新的线索，并增加我们对驱动儿科高级别神经胶质瘤的肿瘤发生过程的理解。
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