Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy.
Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy.
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脊髓性肌萎缩症中剪接体小核核糖核蛋白生物发生缺陷和运动神经元选择性。
DOI：
10.1016/j.brainres.2012.02.051
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发表时间：
2012
期刊：
影响因子：
2.9
通讯作者：
Battle,DanielJ
中科院分区：
文献类型：
--
作者：
Workman,Eileen;Kolb,StephenJ;Battle,DanielJ
SMN蛋白在所有细胞中都是必不可少的，并参与RNA和蛋白质大分子复合物的组装。SMN最典型的功能是作为剪接体小核核糖核蛋白（snRNPs）的组装者。SMN作为一种复合体的一部分，与其他几种称为Gemins的蛋白质一起发挥这一功能。snRNPs在细胞质中以分步方式组装，然后被导入细胞核，在细胞核中参与pre-mRNA的剪接。SMN1基因突变导致运动神经元疾病，脊髓性肌萎缩症（SMA）。大多数这些突变导致SMN蛋白表达水平的降低，进而导致snRNP组装能力的降低。本文综述了目前关于SMN依赖性snRNP组装机制的研究，以及SMN减少对pre-mRNA剪接的下游影响。这篇文章是题为“rna结合蛋白”特刊的一部分。
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".