Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy

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• 作者：Eileen Workman^a ; Stephen J. Kolb^a ; ^b ; ^c ; Daniel J. Battle^a ; ^b ; ^c ; ^{battle.59@osu.edu}
• 关键词：SMA ; spinal muscular atrophy ; SMN ; survival motor neuron protein ; SMN1 ; Survival Motor Neuron 1 gene ; SMN2 ; Survival Motor Neuron 2 gene ; RNPs ; ribonucleoprotein complexes ; snRNPs ; small nuclear ribonucleoproteins ; snRNA ; small nuclear RNA ; sDMA ; symmetri
• 刊名：Brain Research
• 出版年：2012
• 期刊代码：8_00068993
• 类别：neu
• 出版时间：26 June, 2012
• 卷：1462
• 期：Complete
• 页码：93-99
• 文件大小：421 K

摘要

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 鈥淩NA-Binding Proteins".