title: How prevalent is functional alternative splicing in the human genome?
abstract: Comparative analyses of ESTs and cDNAs with genomic DNA predict a high frequency of alternative splicing in human genes. However, there is an ongoing debate as to how many of these predicted splice variants are functional and how many are the result of aberrant splicing (or 'noise'). To address this question, we compared alternatively spliced cassette exons that are conserved between human and mouse with EST-predicted cassette exons that are not conserved in the mouse genome. Presumably, conserved exon-skipping events represent functional alternative splicing. We show that conserved (functional) cassette exons possess unique characteristics in size, repeat content and in their influence on the protein. By contrast, most non-conserved cassette exons do not share these characteristics. We conclude that a significant portion of cassette exons evident in EST databases is not functional, and might result from aberrant rather than regulated splicing.
authors.affiliation: Department of Human Genetics, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.
authors.forename: Rotem
authors.initials: R
authors.lastname: Sorek
authors.forename: Ron
authors.initials: R
authors.lastname: Shamir
authors.forename: Gil
authors.initials: G
authors.lastname: Ast
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D019143:Evolution, Molecular; D005091:Exons; D020224:Expressed Sequence Tags; D015894:Genome, Human; D006801:Humans; D007438:Introns; D008957:Models, Genetic; D022821:RNA Splice Sites
chemical_list: D022821:RNA Splice Sites