Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 14-26 |
| Number of pages | 13 |
| Journal | Biochimica et Biophysica Acta - Molecular Basis of Disease |
| Volume | 1792 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 2009 |
Bibliographical note
Funding Information:This work was supported by the EURASNET (European Alternative Splicing Network of Excellence), NIH (National Institutes of Health; P20 RR020171, R21HD056195-01), BMBF (Federal Ministry of Education and Research, Germany) and DFG (Deutsche Forschungsgemeinschaft; SFB 473).
Funding
This work was supported by the EURASNET (European Alternative Splicing Network of Excellence), NIH (National Institutes of Health; P20 RR020171, R21HD056195-01), BMBF (Federal Ministry of Education and Research, Germany) and DFG (Deutsche Forschungsgemeinschaft; SFB 473).
| Funders | Funder number |
|---|---|
| EURASNET | |
| National Institutes of Health (NIH) | R21HD056195-01 |
| National Center for Research Resources | P20RR020171 |
| Deutsche Forschungsgemeinschaft | SFB 473 |
| Bundesministerium für Bildung und Forschung |
Keywords
- Alternative splicing
- Disease
- Mutation
- Splicing code
ASJC Scopus subject areas
- Molecular Medicine
- Molecular Biology
