Wagner Stacey D, Berglund J Andrew
Department of Chemistry and Institute of Molecular Biology, University of Oregon, Eugene, OR, USA.
Methods Mol Biol. 2014;1126:45-54. doi: 10.1007/978-1-62703-980-2_4.
Alternative pre-mRNA splicing is an integral part of gene regulation in eukaryotes. Here we provide a basic overview of the various types of alternative splicing, as well as the functional role, highlighting how alternative splicing varies across phylogeny. Regulated alternative splicing can affect protein function and ultimately impact biological outcomes. We examine the possibility that portions of alternatively spliced transcripts are the result of stochastic processes rather than regulated. We discuss the implications of misregulated alternative splicing and explore of the role of alternative splicing in human disease.
可变前体mRNA剪接是真核生物基因调控的一个组成部分。在此,我们提供了各种类型可变剪接的基本概述,以及其功能作用,重点介绍了可变剪接在系统发育中的差异。受调控的可变剪接会影响蛋白质功能,并最终影响生物学结果。我们研究了可变剪接转录本的某些部分是随机过程而非受调控的结果的可能性。我们讨论了可变剪接失调的影响,并探讨了可变剪接在人类疾病中的作用。