Downstream intronic splicing enhancers

Abstract 

Alternative splicing leads to multiple proteins from individual genes and the most common deviation from the norm is precise exon omission. Mutations that cause this can be found deep in introns, especially downstream of the cassette exon. This review summarises what is known about these intronic splicing enhancers and their RNA-binding proteins that cause spliceosome assembly on the upstream exon.

Abbreviations: ISE, intronic splicing enhancer, RBP, RNA-binding protein, hnRNP, heterogeneous nuclear ribonucleoprotein, snRNP, small nuclear ribonucleoprotein

Keywords: Alternative splicing, Neural splicing, Intronic splicing enhancer, RNA-binding protein, Genetic disease