title: Self-alignments to detect mutually exclusive exon usage.
abstract: The surprisingly low number of about 25,000 genes in the human genome [1] confirmed a fairly accurate estimate given by King and Jukes in 1969 based on population genetical arguments [2]. On the other hand, the number of different transcripts vastly exceeds gene number. This fact intensified the search for alternatively spliced genes. Recent results [1,3,4-7] suggest that more than 60% of the human genes are alternatively spliced, some of them with a myriad of different splice forms. Alternative splicing is found in all higher eukaryotic species in varying frequency. In this paper we focus on a particular form of alternative splicing, the so-called mutually exclusive exon usage (MEEU). In most known examples mutually exclusive exons are arranged in cassettes of highly similar exons suggesting that they have been derived by exon duplication [8-10]. Since classical gene-finding programs may fail to correctly predict such genes [11-16], we present a method, which is based on local similarity of exons, to detect gene candidates with mutually exclusive exon usage. We have screened the entire genome of D. melanogaster and found five new genes with MEEU in addition to eight previously described cases. Additional 1703 candidate regions of putative mutually exclusive exons were identified.
authors.affiliation: Institut für Molekularbiologie und Bioinformatik, Charité Berlin, Germany. martin.stephan@charite.de
authors.forename: Martin
authors.initials: M
authors.lastname: Stephan
authors.forename: Friedrich
authors.initials: F
authors.lastname: Möller
authors.forename: Thomas
authors.initials: T
authors.lastname: Wiehe
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kleffe
mesh_terms: D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002877:Chromosomes, Human / Q000235:genetics; D004331:Drosophila melanogaster / Q000235:genetics; D005091:Exons / Q000235:genetics*; D020224:Expressed Sequence Tags; D015894:Genome, Human; D006801:Humans; D016415:Sequence Alignment