人类癌症中组蛋白H3K27去甲基化酶基因UTX的体细胞突变。
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.
作者信息
van Haaften Gijs, Dalgliesh Gillian L, Davies Helen, Chen Lina, Bignell Graham, Greenman Chris, Edkins Sarah, Hardy Claire, O'Meara Sarah, Teague Jon, Butler Adam, Hinton Jonathan, Latimer Calli, Andrews Jenny, Barthorpe Syd, Beare Dave, Buck Gemma, Campbell Peter J, Cole Jennifer, Forbes Simon, Jia Mingming, Jones David, Kok Chai Yin, Leroy Catherine, Lin Meng-Lay, McBride David J, Maddison Mark, Maquire Simon, McLay Kirsten, Menzies Andrew, Mironenko Tatiana, Mulderrig Lee, Mudie Laura, Pleasance Erin, Shepherd Rebecca, Smith Raffaella, Stebbings Lucy, Stephens Philip, Tang Gurpreet, Tarpey Patrick S, Turner Rachel, Turrell Kelly, Varian Jennifer, West Sofie, Widaa Sara, Wray Paul, Collins V Peter, Ichimura Koichi, Law Simon, Wong John, Yuen Siu Tsan, Leung Suet Yi, Tonon Giovanni, DePinho Ronald A, Tai Yu-Tzu, Anderson Kenneth C, Kahnoski Richard J, Massie Aaron, Khoo Sok Kean, Teh Bin Tean, Stratton Michael R, Futreal P Andrew
机构信息
Wellcome Trust Sanger Institute, Hinxton, UK.
出版信息
Nat Genet. 2009 May;41(5):521-3. doi: 10.1038/ng.349. Epub 2009 Mar 29.
Somatically acquired epigenetic changes are present in many cancers. Epigenetic regulation is maintained via post-translational modifications of core histones. Here, we describe inactivating somatic mutations in the histone lysine demethylase gene UTX, pointing to histone H3 lysine methylation deregulation in multiple tumor types. UTX reintroduction into cancer cells with inactivating UTX mutations resulted in slowing of proliferation and marked transcriptional changes. These data identify UTX as a new human cancer gene.
体细胞获得性表观遗传变化存在于许多癌症中。表观遗传调控通过核心组蛋白的翻译后修饰得以维持。在此，我们描述了组蛋白赖氨酸去甲基化酶基因UTX中的失活体细胞突变，这表明多种肿瘤类型中存在组蛋白H3赖氨酸甲基化失调。将UTX重新导入具有UTX失活突变的癌细胞中导致增殖减缓及显著的转录变化。这些数据确定UTX为一种新的人类癌症基因。
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