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The genetic alteration spectrum of the SWI/SNF complex: The oncogenic roles of BRD9 and ACTL6A


Autoři: Xiaoxian Sima aff001;  Jiangnan He aff001;  Jie Peng aff002;  Yanmei Xu aff003;  Feng Zhang aff004;  Libin Deng aff002
Působiště autorů: Queen Mary College, Nanchang University, Nanchang, Jiangxi, P.R. China aff001;  Jiangxi Provincial Key Laboratory of Preventive Medicine, School of Public Health, Nanchang University, Nanchang, Jiangxi, P.R. China aff002;  The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, P.R. China aff003;  Institute of Translational Medicine, Nanchang University, Nanchang, Jiangxi, P. R. China aff004;  College of Basic Medical Science, Nanchang University, Nanchang, Jiangxi, P.R. China aff005
Vyšlo v časopise: PLoS ONE 14(9)
Kategorie: Research Article
doi: https://doi.org/10.1371/journal.pone.0222305

Souhrn

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.

Klíčová slova:

Medicine and health sciences – Oncology – Carcinogenesis – Cancers and neoplasms – Carcinomas – Adenocarcinomas – Adenocarcinoma of the lung – Lung and intrathoracic tumors – Biology and life sciences – Genetics – Mutation – Point mutation – Gene expression – Gene amplification – Genomics – Genome complexity – Copy number variation – Biochemistry – Metabolism – Metabolic processes – Oxidative phosphorylation – Ribosomes – Cell biology – Cellular structures and organelles – Computational biology


Zdroje

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