Hakim Nor Hakimah Ab, Majlis Burhanuddin Yeop, Suzuki Hitoshi, Tsukahara Toshifumi
Institute of Microengineering and Nanoelectronics (IMEN), Universiti Kebangsaan Malaysia.
Biosci Trends. 2017 Mar 22;11(1):16-22. doi: 10.5582/bst.2016.01169. Epub 2016 Dec 31.
During pre-mRNA splicing events, introns are removed from the pre-mRNA, and the remaining exons are connected together to form a single continuous molecule. Alternative splicing is a common mechanism for the regulation of gene expression in eukaryotes. More than 90% of human genes are known to undergo alternative splicing. The most common type of alternative splicing is exon skipping, which is also known as cassette exon. Other known alternative splicing events include alternative 5' splice sites, alternative 3' splice sites, intron retention, and mutually exclusive exons. Alternative splicing events are controlled by regulatory proteins responsible for both positive and negative regulation. In this review, we focus on neuronal splicing regulators and discuss several notable regulators in depth. In addition, we have also included an example of splicing regulation mediated by the RBFox protein family. Lastly, as previous studies have shown that a number of splicing factors are associated with neuronal diseases such as Alzheime's disease (AD) and Autism spectrum disorder (ASD), here we consider their importance in neuronal diseases wherein the underlying mechanisms have yet to be elucidated.
在前体信使核糖核酸（pre-mRNA）剪接过程中，内含子从前体信使核糖核酸中去除，剩余的外显子连接在一起形成一个单一的连续分子。可变剪接是真核生物中基因表达调控的常见机制。已知超过90%的人类基因会发生可变剪接。最常见的可变剪接类型是外显子跳跃，也称为盒式外显子。其他已知的可变剪接事件包括可变5'剪接位点、可变3'剪接位点、内含子保留和互斥外显子。可变剪接事件由负责正负调控的调节蛋白控制。在本综述中，我们重点关注神经元剪接调节因子，并深入讨论几种值得注意的调节因子。此外，我们还纳入了RBFox蛋白家族介导的剪接调控实例。最后，正如先前的研究表明，许多剪接因子与阿尔茨海默病（AD）和自闭症谱系障碍（ASD）等神经疾病有关，在此我们考虑它们在尚未阐明潜在机制的神经疾病中的重要性。
