The process of eukaryotic RNA splicing involves the excision of non-coding introns and the preservation and joining of coding exons in an RNA molecule (Figure 1). This process is achieved via the use of a spliceosome. RNA splicing is activated by the binding of the spliceosome to the RNA molecule. Many eukaryotic transcripts are alternatively spliced (Figure 2). In this process, a different subset of exons are joined together to create a new transcript. Exon skipping can also result from mutations that alter the genetically encoded splice site. Alternative splicing is a key mechanism for diversification of the transcriptome and proteome of most eukaryotic species, allowing for the generation of many alternate transcripts and protein products from a single gene.
Figure 1. RNA splicing is the process whereby non-coding introns are removed to create a sequence of coding exons. The splicing process is mediated by the spliceosome. The spliceosome is a complex of several RNA protein molecules including but not limited to ZRSR2, SRSF2, SF3B1, and U2AF1. Broadly, the spliceosome removes intronic sequences to generate the mRNA which will be used to translate the resultant protein. Specific nodes in the pathway that are therapeutically actionable are noted. Click here to open a larger version of this image in a new window.
Figure 2. Alternative splicing is the process whereby non-coding introns and some exons are removed to create a sequence of coding exons. The resultant mRNA is an alternative transcript and may or may not be translated. If translated, an alternate protein product will be generated. Click here to open a larger version of this image in a new window.
Diseases in Which Pathway is Aberrantly Activated
Genes Involved in the Pathway
Last Updated: August 1, 2016