Department of Neurogenetics, Howard Florey Institute, Melbourne, VIC 3010, Australia.
Biochem Soc Trans. 2009 Dec;37(Pt 6):1311-5. doi: 10.1042/BST0371311.
Splicing is a post-transcriptional modification of RNA during which introns are removed and exons are joined. Most of the mammalian genes undergo constitutive and alternative splicing events. In addition to the strong signals of the splice sites, splicing is influenced at a distance by a range of trans factors that interact with cis regulatory elements and influence the spliceosome. The intention of the present mini-review is to give some insights into the complexity of this interaction and to introduce the consequences of some kinds of detrimental genetic variation on alternative splicing and disease.
剪接是 RNA 的一种转录后修饰过程，在此过程中，内含子被去除，外显子被连接。大多数哺乳动物基因都经历组成型和选择性剪接事件。除了剪接位点的强信号外，剪接还受到一系列远距离的转录因子的影响，这些转录因子与顺式调控元件相互作用，影响剪接体。本综述的目的是深入了解这种相互作用的复杂性，并介绍一些有害遗传变异对选择性剪接和疾病的影响。
