title: Defective control of pre-messenger RNA splicing in human disease.
abstract: Examples of associations between human disease and defects in pre-messenger RNA splicing/alternative splicing are accumulating. Although many alterations are caused by mutations in splicing signals or regulatory sequence elements, recent studies have noted the disruptive impact of mutated generic spliceosome components and splicing regulatory proteins. This review highlights recent progress in our understanding of how the altered splicing function of RNA-binding proteins contributes to myelodysplastic syndromes, cancer, and neuropathologies.
authors.affiliation: Centre of Excellence in RNA Biology, Department of Microbiology and Infectious Diseases, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Québec J1E 4K8, Canada benoit.chabot@usherbrooke.ca.
authors.forename: Benoit
authors.initials: B
authors.lastname: Chabot
authors.affiliation: Centre of Excellence in RNA Biology, Department of Microbiology and Infectious Diseases, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Québec J1E 4K8, Canada.
authors.forename: Lulzim
authors.initials: L
authors.lastname: Shkreta
mesh_terms: D006801:Humans; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000378:metabolism; D009369:Neoplasms / Q000235:genetics* / Q000378:metabolism; D000069338:Neuropathology; D012326:RNA Splicing / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics* / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D012333:RNA, Messenger; D016601:RNA-Binding Proteins