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SWI/SNF 基因突变导致的基因表达失调:在细胞分化、癌症和发育性疾病中的作用。

The SWI/SNF genetic blockade: effects in cell differentiation, cancer and developmental diseases.

机构信息

Genes and Cancer Group, Cancer Epigenetics and Biology Program-PEBC, Bellvitge Biomedical Research Institute-IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.

出版信息

Oncogene. 2014 May 22;33(21):2681-9. doi: 10.1038/onc.2013.227. Epub 2013 Jun 10.

DOI:10.1038/onc.2013.227
PMID:23752187
Abstract

Our rapidly growing knowledge about cancer genetics attests to the widespread occurrence of alterations at genes encoding different components of the SWI/SNF complex. This reveals an important new feature that sustains cancer development: the blockade of chromatin remodeling. Here, we provide an overview of our current knowledge on the gene alterations of chromatin-remodeling factors, and how they relate to cancer and human developmental diseases. We also consider the functional repercussions, particularly how the inactivation of the SWI/SNF complex impairs the appropriate cell response to nuclear receptor signaling, which, in turn, prevents cell differentiation and sustains cell growth independently of the environment.

摘要

我们对癌症遗传学的快速增长的认识证明了 SWI/SNF 复合物不同成分的基因改变广泛存在。这揭示了一个维持癌症发展的重要新特征:染色质重塑的阻断。在这里,我们提供了一个关于染色质重塑因子基因改变的概述,以及它们与癌症和人类发育性疾病的关系。我们还考虑了功能影响,特别是 SWI/SNF 复合物的失活如何损害细胞对核受体信号的适当反应,进而阻止细胞分化,并独立于环境维持细胞生长。

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