Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity.
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.
Hiller
Michael
M
Institute of Computer Science, Friedrich-Schiller-University Jena, Chair for Bioinformatics, Ernst-Abbe-Platz 2, 07743 Jena, Germany.
Huse
Klaus
K
Szafranski
Karol
K
Jahn
Niels
N
Hampe
Jochen
J
Schreiber
Stefan
S
Backofen
Rolf
R
Platzer
Matthias
M
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*
D020543:Proteome; D022821:RNA Splice Sites