title: Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases.
abstract: Exonic splicing enhancers (ESEs) are discrete sequences within exons that promote both constitutive and regulated splicing. The precise mechanism by which ESEs facilitate the assembly of splicing complexes has been controversial. However, recent studies have provided insights into this question and have led to a new model for ESE function. Other recent work has suggested that ESEs are comprised of diverse sequences and occur frequently within exons. Ominously, these latter studies predict that many human genetic diseases linked to mutations within exons might be caused by the inactivation of ESEs.
authors.affiliation: Dept of Medical Research, C.H. Best Institute, University of Toronto, 112 College St, Toronto, Ontario, Canada M5G 1L6. b.blencowe@utoronto.ca
authors.forename: B J
authors.initials: BJ
authors.lastname: Blencowe
mesh_terms: D034961:Antigens, Nuclear; D004742:Enhancer Elements, Genetic; D005091:Exons; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D034521:Nuclear Matrix-Associated Proteins; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D012326:RNA Splicing; D016601:RNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D012261:Ribonucleoproteins / Q000235:genetics / Q000378:metabolism; D000072668:Splicing Factor U2AF
chemical_list: D034961:Antigens, Nuclear; D034521:Nuclear Matrix-Associated Proteins; D009687:Nuclear Proteins; D016601:RNA-Binding Proteins; D012261:Ribonucleoproteins; C111710:SRRM1 protein, human; D000072668:Splicing Factor U2AF; C000607494:U2AF2 protein, human