Alternative splicing and disease.
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.
Tazi
Jamal
J
University of Montpellier II, Institute of Molecular Genetics, Centre Nationale de Recherche Scientifique, 1919 Route de Mende, France.
Bakkour
Nadia
N
Stamm
Stefan
S
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
D012322:RNA Precursors; D020537:RNA, Small Nucleolar