Lee Christopher J, Irizarry Kris
Molecular Biology Institute, UCLA Center for Bioinformatics, Center for Genomics and Proteomics, Department of Chemistry and Biochemistry, Boyer Hall, University of California-Los Angeles, Los Angeles, CA 90095, USA.
Biol Psychiatry. 2003 Oct 15;54(8):771-6. doi: 10.1016/s0006-3223(03)00375-5.
Alternative splicing is emerging as a major mechanism of functional regulation in the human genome. Previously considered to be an unusual event, it has been detected by many genomics studies in 40%-60% of human genes. Moreover, it appears to be of central importance for neuronal genes and other genes involved in "information processing" functions. In this review, we will summarize alternative splicing's effects on mRNA transcripts, protein products, biological function, and human disease, focusing on genes of neuropsychiatric interest. We will also describe the latest experimental methods and database resources that can help neuroscientists make use of alternative splicing in their own research.
可变剪接正在成为人类基因组中功能调控的一种主要机制。以前被认为是一种不寻常的事件，现在许多基因组学研究已在40%-60%的人类基因中检测到它。此外，它似乎对神经元基因和其他参与“信息处理”功能的基因至关重要。在本综述中，我们将总结可变剪接对mRNA转录本、蛋白质产物、生物学功能和人类疾病的影响，重点关注神经精神相关基因。我们还将描述最新的实验方法和数据库资源，这些可以帮助神经科学家在自己的研究中利用可变剪接。
