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Hum Genet. 2014 Jun;133(6):679-87. doi: 10.1007/s00439-013-1411-3. Epub 2014 Jan 1.

Genomics of alternative splicing: evolution, development and pathophysiology.

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Section of Genetic Medicine, Department of Medicine, The University of Chicago, KCBD 3220D, 900 East 57th Street, Chicago, IL, 60637-1234, USA,


Alternative splicing is a major cellular mechanism in metazoans for generating proteomic diversity. A large proportion of protein-coding genes in multicellular organisms undergo alternative splicing, and in humans, it has been estimated that nearly 90 % of protein-coding genes-much larger than expected-are subject to alternative splicing. Genomic analyses of alternative splicing have illuminated its universal role in shaping the evolution of genomes, in the control of developmental processes, and in the dynamic regulation of the transcriptome to influence phenotype. Disruption of the splicing machinery has been found to drive pathophysiology, and indeed reprogramming of aberrant splicing can provide novel approaches to the development of molecular therapy. This review focuses on the recent progress in our understanding of alternative splicing brought about by the unprecedented explosive growth of genomic data and highlights the relevance of human splicing variation on disease and therapy.

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