Suppr超能文献

多种复发性遗传事件共同作用于髓母细胞瘤中组蛋白赖氨酸甲基化的调控。

Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma.

作者信息

Northcott Paul A, Nakahara Yukiko, Wu Xiaochong, Feuk Lars, Ellison David W, Croul Sid, Mack Stephen, Kongkham Paul N, Peacock John, Dubuc Adrian, Ra Young-Shin, Zilberberg Karen, McLeod Jessica, Scherer Stephen W, Sunil Rao J, Eberhart Charles G, Grajkowska Wiesia, Gillespie Yancey, Lach Boleslaw, Grundy Richard, Pollack Ian F, Hamilton Ronald L, Van Meter Timothy, Carlotti Carlos G, Boop Frederick, Bigner Darrell, Gilbertson Richard J, Rutka James T, Taylor Michael D

机构信息

Division of Neurosurgery, Arthur and Sonia Labatt Brain Tumour Research Centre, Toronto, Ontario, Canada.

出版信息

Nat Genet. 2009 Apr;41(4):465-72. doi: 10.1038/ng.336. Epub 2009 Mar 8.

Abstract

We used high-resolution SNP genotyping to identify regions of genomic gain and loss in the genomes of 212 medulloblastomas, malignant pediatric brain tumors. We found focal amplifications of 15 known oncogenes and focal deletions of 20 known tumor suppressor genes (TSG), most not previously implicated in medulloblastoma. Notably, we identified previously unknown amplifications and homozygous deletions, including recurrent, mutually exclusive, highly focal genetic events in genes targeting histone lysine methylation, particularly that of histone 3, lysine 9 (H3K9). Post-translational modification of histone proteins is critical for regulation of gene expression, can participate in determination of stem cell fates and has been implicated in carcinogenesis. Consistent with our genetic data, restoration of expression of genes controlling H3K9 methylation greatly diminishes proliferation of medulloblastoma in vitro. Copy number aberrations of genes with critical roles in writing, reading, removing and blocking the state of histone lysine methylation, particularly at H3K9, suggest that defective control of the histone code contributes to the pathogenesis of medulloblastoma.

摘要

我们使用高分辨率单核苷酸多态性基因分型技术,来鉴定212例髓母细胞瘤(一种恶性小儿脑肿瘤)基因组中的基因组扩增和缺失区域。我们发现了15个已知致癌基因的局灶性扩增以及20个已知肿瘤抑制基因(TSG)的局灶性缺失,其中大多数基因以前并未被认为与髓母细胞瘤有关。值得注意的是,我们发现了以前未知的扩增和纯合缺失,包括靶向组蛋白赖氨酸甲基化(特别是组蛋白3赖氨酸9(H3K9))的基因中反复出现的、相互排斥的、高度局灶性的遗传事件。组蛋白的翻译后修饰对于基因表达的调控至关重要,可参与干细胞命运的决定,并与肿瘤发生有关。与我们的遗传数据一致,控制H3K9甲基化的基因表达恢复后,可大大减少髓母细胞瘤在体外的增殖。在组蛋白赖氨酸甲基化(特别是H3K9)的写入、读取、去除和阻断状态中起关键作用的基因的拷贝数畸变,表明组蛋白编码的缺陷控制有助于髓母细胞瘤的发病机制。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验