Journal
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Volume 1792, Issue 1, Pages 14-26Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.bbadis.2008.09.017
Keywords
Alternative splicing; Disease; Splicing code; Mutation
Funding
- EURASNET (European Alternative Splicing Network of Excellence)
- NIH [P20 RR020171, R21HD056195-01]
- BMBF
- DFG [SFB 473]
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [R21HD056195] Funding Source: NIH RePORTER
- NATIONAL CENTER FOR RESEARCH RESOURCES [P20RR020171] Funding Source: NIH RePORTER
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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. (C) 2008 Elsevier B.V. All rights reserved.
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