Alternative splicing and disease. Biochim Biophys Acta

University of Montpellier II, Institute of Molecular Genetics, Centre Nationale de Recherche Scientifique, 1919 Route de Mende, France.
Biochimica et Biophysica Acta (Impact Factor: 4.66). 11/2008; 1792(1):14-26. DOI: 10.1016/j.bbadis.2008.09.017
Source: PubMed


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.

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Available from: Stefan Stamm