Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6264304 | Brain Research | 2012 | 7 Pages |
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".
⺠SMN functions in the assembly of spliceosomal snRNPs. ⺠Reduction of SMN protein causes defects in snRNP biogenesis. ⺠Mutation of SMN causes the neuromuscular disease, spinal muscular atrophy. ⺠It is not known how defects of snRNP biogenesis cause motor neuron degeneration.