Arabidopsis intron mutations and pre-mRNA splicing

Arabidopsis intron mutants provide and will continue to provide a valuable source of information on in vivo plant intron splicing. All of the characterized mutants discussed here contain base substitutions in either the 5' splice site :GU or 3' splice site AG: dinucleotides or broader splice site consensus sequences. Many of these mutations lead to the activation of cryptic splice sites, usually upstream or downstream of the authentic 5' and 3' splice sites respectively, often with reduced efficiency. This splicing behaviour is in agreement with detailed splicing analyses of test plant introns. However, some of the Arabidopsis mutations lead to more complex splicing patterns often involving exon skipping. These mutations illustrate the complexity of the splicing reaction (where the final splicing event reflects the characteristics such as splice site sequence, intron size and composition, and their interactions with spliceosomal components) and how single nucleotide mutations can affect the strength and balance of interactions to alter splicing patterns. The splicing patterns observed in the Arabidopsis mutants parallel those seen in mutations causing some human genetic disorders underlining the emerging similarities in mechanisms of splice site selection and intron/exon definition between plant and vertebrate systems. Analysis of the Arabidopsis intron mutations exhibiting complex splicing patterns will help to address fundamental questions in plant splicing, such as splice site selection and exon scanning. This information will be important in understanding the mechanisms by which gene expression is regulated post-transcriptionally in the ever-increasing number of alternatively spliced plant gene systems.