title: Alternative splicing and disease.
abstract: Almost all protein-coding genes are spliced and their majority is alternatively spliced. Alternative splicing is a key element in eukaryotic gene expression that increases the coding capacity of the human genome and an increasing number of examples illustrates that the selection of wrong splice sites causes human disease. A fine-tuned balance of factors regulates splice site selection. Here, we discuss well-studied examples that show how a disturbance of this balance can cause human disease. The rapidly emerging knowledge of splicing regulation now allows the development of treatment options.
authors.affiliation: University of Montpellier II, Institute of Molecular Genetics, Centre Nationale de Recherche Scientifique, 1919 Route de Mende, France.
authors.forename: Jamal
authors.initials: J
authors.lastname: Tazi
authors.forename: Nadia
authors.initials: N
authors.lastname: Bakkour
authors.forename: Stefan
authors.initials: S
authors.lastname: Stamm
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D004194:Disease / Q000235:genetics*; D004402:Dysautonomia, Familial / Q000235:genetics; D005091:Exons; D005260:Female; D006938:Hyperlipoproteinemia Type II / Q000235:genetics; D008297:Male; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000235:genetics; D009369:Neoplasms / Q000235:genetics; D009690:Nucleic Acid Conformation; D011371:Progeria / Q000235:genetics; D012322:RNA Precursors / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D020537:RNA, Small Nucleolar / Q000235:genetics / Q000378:metabolism; D015398:Signal Transduction; D017381:Spliceosomes / Q000378:metabolism; D024801:Tauopathies / Q000235:genetics
chemical_list: D012322:RNA Precursors; D020537:RNA, Small Nucleolar