Alternative Splicing: A Potential Source of Functional Innovation in the Eukaryotic Genome
Novel AS variants can take on specialised or novel roles. Novel splicing variants can arise from (a) mutations in the exon recognition site of a constitutive exon and subsequent acquisition of AS regulatory elements. (b) Exonization of introns or intron regions or transposable elements with subsequent acquisition of AS regulatory regions. Novel proteins may interact with different proteins or localise in different subcellular regions. (c) Exon duplication and subsequent specialization functional domains and AS regulatory regions. Resulting specialised proteins may take on partial roles relevant in different cell types or developmental stages or result in novel interactions and functions.
(a) Splicing signal degeneration
(b) Exonization of non-coding DNA or transposons
(c) Exon duplication and specialization of isoforms
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