Journal
BRAIN RESEARCH
Volume 1462, Issue -, Pages 93-99Publisher
ELSEVIER
DOI: 10.1016/j.brainres.2012.02.051
Keywords
Spinal muscular atrophy; Survival motor neuron; SMN; SMA; snRNP; Gemin
Categories
Funding
- NINDS [K08NS067282, NS077010]
- Families of Spinal Muscular Atrophy
- Fred F. and Herman M. Dreier Fund at The Columbus Foundation
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The SMN protein is essential and participates in the assembly of macromolecular complexes of RNA and protein in all cells. The best-characterized function of SMN is as an assembler of spliceosomal small nuclear ribonucleoproteins (snRNPs). SMN performs this function as part of a complex with several other proteins called Gemins. snRNPs are assembled in the cytoplasm in a stepwise manner and then are imported to the nucleus where they participate globally in the splicing of pre-mRNA. Mutations in the SMN1 gene result in the motor neuron disease, spinal muscular atrophy (SMA). Most of these mutations result in a reduction in the expression levels of the SMN protein, which, in turn, results in a reduction in snRNP assembly capacity. This review highlights current studies that have investigated the mechanism of SMN-dependent snRNP assembly, as well as the downstream effects on pre-mRNA splicing that result from a decrease in SMN. This article is part of a Special Issue entitled RNA-Binding Proteins. (c) 2012 Elsevier B.V. All rights reserved.
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