SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease.
SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease.
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DOI：
10.1016/j.semcdb.2014.04.026
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发表时间：
2014-08
影响因子：
7.3
通讯作者：
Pellizzoni L
中科院分区：
文献类型：
--
作者：
Li DK;Tisdale S;Lotti F;Pellizzoni L
在转录后水平，蛋白质编码基因的表达受一系列RNA调控事件的控制，包括初级转录产物的核处理、成熟mRNAs到特定细胞间隔的运输、翻译和最终的周转。这些过程是通过mRNAs与RNA结合蛋白和核糖核蛋白(RNP)复合体的动态结合来协调的。RNPs在体内的准确形成对细胞的发育和功能至关重要，其损伤经常导致人类疾病。存活运动神经元(SMN)蛋白是这一生物学范式的关键：SMN对于在mRNA加工中发挥作用的各种RNPs的生物发生是必不可少的，而导致SMN缺陷的基因突变会导致神经退行性疾病脊肌萎缩。在这里，我们综述了SMN通过其在RNP组装中的多种功能在基因表达调控中的扩展作用。我们讨论了我们对SMN活性作为RNPs伴侣的理解的进展，以及SMN依赖的RNA通路的破坏如何导致运动神经元病。
At the post-transcriptional level, expression of protein-coding genes is controlled by a series of RNA regulatory events including nuclear processing of primary transcripts, transport of mature mRNAs to specific cellular compartments, translation and ultimately, turnover. These processes are orchestrated through the dynamic association of mRNAs with RNA binding proteins and ribonucleoprotein (RNP) complexes. Accurate formation of RNPs in vivo is fundamentally important to cellular development and function, and its impairment often leads to human disease. The survival motor neuron (SMN) protein is key to this biological paradigm: SMN is essential for the biogenesis of various RNPs that function in mRNA processing, and genetic mutations leading to SMN deficiency cause the neurodegenerative disease spinal muscular atrophy. Here we review the expanding role of SMN in the regulation of gene expression through its multiple functions in RNP assembly. We discuss advances in our understanding of SMN activity as a chaperone of RNPs and how disruption of SMN-dependent RNA pathways can cause motor neuron disease.
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