SMARCA4型
瑞士/瑞士法郎
基因
遗传学
生物
点突变
突变
抑制器
染色质重塑
染色质
作者
Xiaoxian Sima,Jiangnan He,Jie Peng,Yanmei Xu,Feng Zhang,Libin Deng
出处
期刊:PLOS ONE
[Public Library of Science]
日期:2019-09-10
卷期号:14 (9): e0222305-e0222305
被引量:56
标识
DOI:10.1371/journal.pone.0222305
摘要
SWItch/Sucrose NonFermentable (SWI/SNF) is a set of multi-subunits chromatin remodeling complexes, playing important roles in a variety of biological processes. Loss-of-function mutations in the genes encoding SWI/SNF subunits have been reported in more than 20% of human cancers. Thus, it was widely considered as a tumor suppressor in the past decade. However, recent studies reported that some genes encoding subunits of SWI/SNF complexes were amplified and play oncogenic roles in human cancers. In present study, we summarized the genetic alteration spectrum of SWI/SNF complexes, and firstly systematically estimated both the copy number variations and point mutations of all 30 genes encoding the subunits in this complex. Additionally, the bioinformatics analyses were performed for two significantly amplified genes, ACTL6A and BRD9, to investigate their oncogenic roles in human cancers. Our findings may lay a foundation for the discovery of potential treatment targets in SWI/SNF complexes of cancers.
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