Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, Canada.
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Curr Genet. 2019 Aug;65(4):905-912. doi: 10.1007/s00294-019-00964-0. Epub 2019 Apr 5.
The spliceosome has been implicated in genome maintenance for decades. Recently, a surge in discoveries in cancer has suggested that the oncogenic mechanism of spliceosomal defects may involve defective genome stability. The action of the core spliceosome prevents R-loop accumulation, and regulates the expression of genome stability factors. At the same time, specific spliceosomal components have non-canonical functions in genome maintenance. Here we review these different models, highlighting their discovery in different model systems, and describing their potential impact on human disease states.
剪接体在几十年来一直被认为与基因组维护有关。最近，癌症领域的大量发现表明，剪接体缺陷的致癌机制可能涉及基因组稳定性缺陷。核心剪接体的作用可防止 R 环积累，并调节基因组稳定性因子的表达。同时，特定的剪接体成分在基因组维护方面具有非典型功能。在这里，我们综述了这些不同的模型，重点介绍了它们在不同模型系统中的发现，并描述了它们对人类疾病状态的潜在影响。
