title: Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy.
abstract: 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".
authors.affiliation: Department of Molecular and Cellular Biochemistry, Wexner Medical Center at The Ohio State University, Columbus, OH 43210, USA.
authors.forename: Eileen
authors.initials: E
authors.lastname: Workman
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Kolb
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Battle
mesh_terms: D000818:Animals; D006801:Humans; D016472:Motor Neuron Disease / Q000235:genetics* / Q000503:physiopathology; D009046:Motor Neurons / Q000502:physiology*; D009134:Muscular Atrophy, Spinal / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics / Q000502:physiology; D017411:Ribonucleoproteins, Small Nuclear / Q000096:biosynthesis* / Q000235:genetics; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics / Q000502:physiology
chemical_list: D017411:Ribonucleoproteins, Small Nuclear; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein