Karpf Adam R, Jones David A
Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Salt Lake City, Utah, UT 84112, USA.
Oncogene. 2002 Aug 12;21(35):5496-503. doi: 10.1038/sj.onc.1205602.
DNA methylation alterations are now widely recognized as a contributing factor in human tumorigenesis. A significant number of tumor suppressor genes are transcriptionally silenced by promoter hypermethylation, and recent research implicates alterations in chromatin structure as the mechanistic basis for this repression. The enzymes responsible for catalyzing DNA-cytosine methylation, as well as the proteins involved in interpreting the DNA methylation signal, have now been elucidated. Technological advances, including gene expression microarrays and genome scanning techniques, have allowed the comprehensive measurement of DNA methylation changes in human cancers. An important distinction between DNA methylation (epigenetic) and mutation or deletion (genetic) tumor suppressor gene inactivation is that epigenetic inactivation can be abrogated by small molecules, including DNA methyltransferase and histone deacetylase inhibitors. Further, strategies have been developed that combine treatments with drugs that reactivate silenced gene expression with secondary agents that target the re-expressed genes and/or reconstituted signal transduction pathways. In this review, we will discuss in detail the mechanisms of gene silencing by DNA methylation, the techniques used to decipher the complement of methylation-inactivated genes in human cancers, and current and future strategies for reactivating the expression of methylation-silenced genes.
DNA甲基化改变如今被广泛认为是人类肿瘤发生的一个促成因素。大量肿瘤抑制基因因启动子高甲基化而发生转录沉默,并且最近的研究表明染色质结构改变是这种抑制作用的机制基础。负责催化DNA胞嘧啶甲基化的酶以及参与解读DNA甲基化信号的蛋白质现已阐明。包括基因表达微阵列和基因组扫描技术在内的技术进步,使得人们能够全面测量人类癌症中DNA甲基化的变化。DNA甲基化(表观遗传)与突变或缺失(遗传)导致的肿瘤抑制基因失活之间的一个重要区别在于,表观遗传失活可以被小分子消除,包括DNA甲基转移酶和组蛋白去乙酰化酶抑制剂。此外,已开发出一些策略,将使沉默基因表达重新激活的药物治疗与靶向重新表达基因和/或重建信号转导通路的辅助药物相结合。在这篇综述中,我们将详细讨论DNA甲基化导致基因沉默的机制、用于解读人类癌症中甲基化失活基因互补情况的技术,以及重新激活甲基化沉默基因表达的当前和未来策略。
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