Abstract
The sequencing of the human genome has revealed that the number of protein-coding genes is far fewer than initially predicted based on phenotypic diversity. This implies that posttranscriptional processing of RNA transcripts plays a more important role in generating genetic diversity than previously anticipated. One of the most powerful mechanisms contributing to transcript diversity is alternative pre-mRNA splicing. This process of generating multiple mRNAs from single pre-mRNA transcripts occurs at the highest frequency in the nervous system. This article focuses on the important role splicing plays in the nervous system and the evidence that mutations that affect splicing often lead to neurological disease.
Original language | English (US) |
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Title of host publication | Encyclopedia of Neuroscience |
Publisher | Elsevier Ltd |
Pages | 245-251 |
Number of pages | 7 |
ISBN (Print) | 9780080450469 |
DOIs | |
State | Published - Jan 1 2009 |
Keywords
- Alternative splicing
- Ataxia
- Frontotemporal dementia and parkinsonism linked to chromosome 17
- Gene expression
- Muscular dystrophy
- Myotonic dystrophy
- Neurodegeneration
- Prader-Willi syndrome
- RNA
- Spinal muscular atrophy
ASJC Scopus subject areas
- Neuroscience(all)