Forn Marta, Muñoz Mar, Tauriello Daniele V F, Merlos-Suárez Anna, Rodilla Verónica, Bigas Anna, Batlle Eduard, Jordà Mireia, Peinado Miguel A
Institute of Predictive and Personalized Medicine of Cancer (IMPPC), 08916 Badalona, Barcelona, Spain.
Mol Oncol. 2013 Dec;7(6):1129-41. doi: 10.1016/j.molonc.2013.08.008. Epub 2013 Aug 30.
DNA methylation and chromatin remodeling are frequently implicated in the silencing of genes involved in carcinogenesis. Long Range Epigenetic Silencing (LRES) is a mechanism of gene inactivation that affects multiple contiguous CpG islands and has been described in different human cancer types. However, it is unknown whether there is a coordinated regulation of the genes embedded in these regions in normal cells and in early stages of tumor progression. To better characterize the molecular events associated with the regulation and remodeling of these regions we analyzed two regions undergoing LRES in human colon cancer in the mouse model. We demonstrate that LRES also occurs in murine cancer in vivo and mimics the molecular features of the human phenomenon, namely, downregulation of gene expression, acquisition of inactive histone marks, and DNA hypermethylation of specific CpG islands. The genes embedded in these regions showed a dynamic and autonomous regulation during mouse intestinal cell differentiation, indicating that, in the framework considered here, the coordinated regulation in LRES is restricted to cancer. Unexpectedly, benign adenomas in Apc(Min/+) mice showed overexpression of most of the genes affected by LRES in cancer, which suggests that the repressive remodeling of the region is a late event. Chromatin immunoprecipitation analysis of the transcriptional insulator CTCF in mouse colon cancer cells revealed disrupted chromatin domain boundaries as compared with normal cells. Malignant regression of cancer cells by in vitro differentiation resulted in partial reversion of LRES and gain of CTCF binding. We conclude that genes in LRES regions are plastically regulated in cell differentiation and hyperproliferation, but are constrained to a coordinated repression by abolishing boundaries and the autonomous regulation of chromatin domains in cancer cells.
DNA甲基化和染色质重塑常常与参与致癌作用的基因沉默有关。长程表观遗传沉默(LRES)是一种基因失活机制,它影响多个相邻的CpG岛,并且已在不同类型的人类癌症中有所描述。然而,在正常细胞和肿瘤进展的早期阶段,这些区域中嵌入的基因是否存在协调调控尚不清楚。为了更好地表征与这些区域的调控和重塑相关的分子事件,我们在小鼠模型中分析了人类结肠癌中经历LRES的两个区域。我们证明LRES在体内的小鼠癌症中也会发生,并且模拟了人类现象的分子特征,即基因表达下调、获得无活性组蛋白标记以及特定CpG岛的DNA高甲基化。这些区域中嵌入的基因在小鼠肠道细胞分化过程中表现出动态和自主调控,这表明,在此处考虑的框架内,LRES中的协调调控仅限于癌症。出乎意料的是,Apc(Min/+)小鼠中的良性腺瘤显示出癌症中受LRES影响的大多数基因的过表达,这表明该区域的抑制性重塑是一个晚期事件。与正常细胞相比,小鼠结肠癌细胞中转录绝缘子CTCF的染色质免疫沉淀分析显示染色质结构域边界被破坏。通过体外分化使癌细胞发生恶性逆转导致LRES部分逆转以及CTCF结合增加。我们得出结论,LRES区域中的基因在细胞分化和过度增殖中受到可塑性调控,但在癌细胞中通过消除边界和染色质结构域的自主调控而被限制为协调抑制。