Downstream intronic splicing enhancers.
Alternative splicing leads to multiple proteins from individual genes and the most common deviation from the norm is precise exon omission. Mutations that cause this can be found deep in introns, especially downstream of the cassette exon. This review summarises what is known about these intronic splicing enhancers and their RNA-binding proteins that cause spliceosome assembly on the upstream exon.
Venables
Julian P
JP
Laboratoire de Génomique Fonctionnelle de l'Université de Sherbrooke, Centre de Développement des Biotechnologies (CDB) de Sherbrooke 3201, Rue Jean-Mignault, Sherbrooke, Québec, Canada. julian.venables@usherbrooke.ca
D017398:Alternative Splicing / Q000235:genetics*; D000818:Animals; D005091:Exons / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics*; D009474:Neurons / Q000378:metabolism*; D009687:Nuclear Proteins / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000378:metabolism
D009687:Nuclear Proteins; D016601:RNA-Binding Proteins