title: Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity.
abstract: Splice acceptors with the genomic NAGNAG motif may cause NAG insertion-deletions in transcripts, occur in 30% of human genes and are functional in at least 5% of human genes. We found five significant biases indicating that their distribution is nonrandom and that they are evolutionarily conserved and tissue-specific. Because of their subtle effects on mRNA and protein structures, these splice acceptors are often overlooked or underestimated, but they may have a great impact on biology and disease.
authors.affiliation: Institute of Computer Science, Friedrich-Schiller-University Jena, Chair for Bioinformatics, Ernst-Abbe-Platz 2, 07743 Jena, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Hiller
authors.forename: Klaus
authors.initials: K
authors.lastname: Huse
authors.forename: Karol
authors.initials: K
authors.lastname: Szafranski
authors.forename: Niels
authors.initials: N
authors.lastname: Jahn
authors.forename: Jochen
authors.initials: J
authors.lastname: Hampe
authors.forename: Stefan
authors.initials: S
authors.lastname: Schreiber
authors.forename: Rolf
authors.initials: R
authors.lastname: Backofen
authors.forename: Matthias
authors.initials: M
authors.lastname: Platzer
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D000818:Animals; D001483:Base Sequence / Q000235:genetics*; D030561:Databases, Nucleic Acid; D014644:Genetic Variation; D023281:Genomics; D006801:Humans; D009154:Mutation / Q000235:genetics; D020543:Proteome / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*
chemical_list: D020543:Proteome; D022821:RNA Splice Sites