The splice of life: alternative splicing and neurological disease
- PMID: 11253358
- DOI: 10.1038/35049061
The splice of life: alternative splicing and neurological disease
Abstract
Splicing of pre-messenger RNA is regulated differently in the brain compared with other tissues. Recognition of aberrations in splicing events that are associated with neurological disease has contributed to our understanding of disease pathogenesis in some cases. Neuron-specific proteins involved in RNA splicing and metabolism are also affected in several neurological disorders. These findings have begun to bridge what we know about the mechanisms regulating neuron-specific splicing and our understanding of neural function and disease.
Similar articles
-
A neuron-specific splicing switch mediated by an array of pre-mRNA repressor sites: evidence of a regulatory role for the polypyrimidine tract binding protein and a brain-specific PTB counterpart.RNA. 1997 Sep;3(9):996-1015. RNA. 1997. PMID: 9292499 Free PMC article.
-
Essential nucleotides direct neuron-specific splicing of gamma 2 pre-mRNA.RNA. 1996 Jul;2(7):682-98. RNA. 1996. PMID: 8756411 Free PMC article.
-
CLIP identifies Nova-regulated RNA networks in the brain.Science. 2003 Nov 14;302(5648):1212-5. doi: 10.1126/science.1090095. Science. 2003. PMID: 14615540
-
Broad specificity of SR (serine/arginine) proteins in the regulation of alternative splicing of pre-messenger RNA.Prog Nucleic Acid Res Mol Biol. 2004;78:37-88. doi: 10.1016/S0079-6603(04)78002-2. Prog Nucleic Acid Res Mol Biol. 2004. PMID: 15210328 Review.
-
Neuronal regulation of alternative pre-mRNA splicing.Nat Rev Neurosci. 2007 Nov;8(11):819-31. doi: 10.1038/nrn2237. Nat Rev Neurosci. 2007. PMID: 17895907 Review.
Cited by
-
PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth.Genes Dev. 2013 Mar 15;27(6):615-26. doi: 10.1101/gad.212308.112. Genes Dev. 2013. PMID: 23512658 Free PMC article.
-
Widespread splicing changes in human brain development and aging.Mol Syst Biol. 2013;9:633. doi: 10.1038/msb.2012.67. Mol Syst Biol. 2013. PMID: 23340839 Free PMC article.
-
Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand.Hum Genet. 2010 Jul;128(1):39-49. doi: 10.1007/s00439-010-0821-8. Epub 2010 Apr 21. Hum Genet. 2010. PMID: 20407791
-
Nova regulates GABA(A) receptor gamma2 alternative splicing via a distal downstream UCAU-rich intronic splicing enhancer.Mol Cell Biol. 2003 Jul;23(13):4687-700. doi: 10.1128/MCB.23.13.4687-4700.2003. Mol Cell Biol. 2003. PMID: 12808107 Free PMC article.
-
The RNA-binding protein, ZC3H14, is required for proper poly(A) tail length control, expression of synaptic proteins, and brain function in mice.Hum Mol Genet. 2017 Oct 1;26(19):3663-3681. doi: 10.1093/hmg/ddx248. Hum Mol Genet. 2017. PMID: 28666327 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical