Genomics of alternative splicing: evolution, development and pathophysiology

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 expec...

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Bibliographic Details
Published inHuman genetics Vol. 133; no. 6; pp. 679 - 687
Main Authors Gamazon, Eric R., Stranger, Barbara E.
Format Journal Article
LanguageEnglish
Published Berlin/Heidelberg Springer Berlin Heidelberg 01.06.2014
Springer
Springer Nature B.V
Subjects
Alternative Splicing
Analysis
beta-Thalassemia - genetics
beta-Thalassemia - physiopathology
beta-Thalassemia - therapy
Biological Evolution
Biomedical and Life Sciences
Biomedicine
Databases, Genetic
Gene Function
Genes
Genetic Therapy
Genetic Variation
Genome, Human
Genomes
Genomics
Human Genetics
Humans
Metabolic Diseases
Metazoa
Molecular Medicine
Muscular Dystrophy, Duchenne - genetics
Muscular Dystrophy, Duchenne - physiopathology
Muscular Dystrophy, Duchenne - therapy
Myelodysplastic Syndromes - genetics
Myelodysplastic Syndromes - physiopathology
Myelodysplastic Syndromes - therapy
Oligonucleotides, Antisense - therapeutic use
Pathophysiology
Review Paper
Software
Transcriptome
United States > US
Chicago Illinois
Alternative Splice
Duchenne Muscular Dystrophy
Splice Site
Splice Factor
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Summary: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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ISSN:0340-6717
1432-1203
1432-1203
DOI:10.1007/s00439-013-1411-3