Genetic and Biochemical Analysis of Alternative RNA Splicing

Abstract

Publisher Summary This chapter discusses the genetic and biochemical analysis of alternative RNA splicing. The chapter focuses on the biochemical studies and in vitro mutagenesis experiments for the understanding of alternative splicing. These analyses provide insight by identifying important cis-acting sequences and a few trans-acting factors that permit selective use of splice junctions. Such analyses shows that RNA secondary structure, steric constraints, splice junction affinity, and splice site competition play important regulatory roles. The chapter also discusses genetic approaches to understand the alternative RNA splicing along with the discussion that covers the studies of several other genes in Drosophila and yeast that illustrate the success of applying genetics to alternative RNA splicing. The observation includes that several human diseases result from exon skipping or the activation of cryptic splice junctions. The genetic approach may prove a useful future direction for eventually understanding the basis of alternative RNA splicing in a wider variety of pre-mRNAs.