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B 细胞淋巴瘤中乙酰转移酶基因的失活突变。

Inactivating mutations of acetyltransferase genes in B-cell lymphoma.

机构信息

Institute for Cancer Genetics, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, New York 10032, USA.

出版信息

Nature. 2011 Mar 10;471(7337):189-95. doi: 10.1038/nature09730.

Abstract

B-cell non-Hodgkin's lymphoma comprises biologically and clinically distinct diseases the pathogenesis of which is associated with genetic lesions affecting oncogenes and tumour-suppressor genes. We report here that the two most common types--follicular lymphoma and diffuse large B-cell lymphoma--harbour frequent structural alterations inactivating CREBBP and, more rarely, EP300, two highly related histone and non-histone acetyltransferases (HATs) that act as transcriptional co-activators in multiple signalling pathways. Overall, about 39% of diffuse large B-cell lymphoma and 41% of follicular lymphoma cases display genomic deletions and/or somatic mutations that remove or inactivate the HAT coding domain of these two genes. These lesions usually affect one allele, suggesting that reduction in HAT dosage is important for lymphomagenesis. We demonstrate specific defects in acetylation-mediated inactivation of the BCL6 oncoprotein and activation of the p53 tumour suppressor. These results identify CREBBP/EP300 mutations as a major pathogenetic mechanism shared by common forms of B-cell non-Hodgkin's lymphoma, with direct implications for the use of drugs targeting acetylation/deacetylation mechanisms.

摘要

B 细胞非霍奇金淋巴瘤包含生物学和临床上不同的疾病,其发病机制与影响癌基因和肿瘤抑制基因的遗传损伤有关。我们在此报告,两种最常见的类型——滤泡性淋巴瘤和弥漫性大 B 细胞淋巴瘤——经常发生抑制 CREBBP 的结构改变,而且更罕见的是,两种高度相关的组蛋白和非组蛋白乙酰转移酶(HATs)EP300 的结构改变,它们作为转录共激活因子在多种信号通路中起作用。总体而言,约 39%的弥漫性大 B 细胞淋巴瘤和 41%的滤泡性淋巴瘤病例显示基因组缺失和/或体细胞突变,从而去除或失活这两个基因的 HAT 编码域。这些病变通常影响一个等位基因,这表明 HAT 剂量的减少对于淋巴瘤的发生很重要。我们证明了乙酰化介导的 BCL6 癌蛋白失活和 p53 肿瘤抑制因子激活的特定缺陷。这些结果确定了 CREBBP/EP300 突变是 B 细胞非霍奇金淋巴瘤常见形式的主要发病机制,这对靶向乙酰化/去乙酰化机制的药物的使用具有直接影响。

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