Diverse role of survival motor neuron protein.
Diverse role of survival motor neuron protein.
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DOI：
10.1016/j.bbagrm.2016.12.008
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发表时间：
2017-03
期刊：
影响因子：
--
通讯作者：
Singh NN
中科院分区：
文献类型：
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作者：
Singh RN;Howell MD;Ottesen EW;Singh NN
多功能存活运动神经元(SMN)蛋白是动物界所有生物生存所必需的。SMN通过与核糖核蛋白(RNP)复合体的形成和/或相互作用影响RNA代谢的各个方面。SMN调节小核RNPs、小核仁RNPs、小Cajal小体相关RNPs、信号识别颗粒和端粒酶的生物发生。SMN还在DNA修复、转录、前mRNA剪接、组蛋白mRNA加工、翻译、硒蛋白合成、大分子运输、应激颗粒形成、细胞信号转导和细胞骨架维持等方面发挥重要作用。SMN的组织特异性要求由其相互作用伙伴的种类和丰度决定。SMN的表达减少会导致脊髓性肌萎缩症(SMA)，这是导致婴儿死亡的主要遗传原因。SMA表现出从胚胎致死到成人发病的广泛范围。SMN的异常表达和/或定位也与男性不育、包涵体肌炎、肌萎缩侧索硬化症和骨关节炎有关。本文综述了SMN的各种功能，对更好地了解SMA和其他病理情况具有重要意义。
The multifunctional Survival Motor Neuron (SMN) protein is required for the survival of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism through the formation and/or interaction with ribonucleoprotein (RNP) complexes. SMN regulates biogenesis of small nuclear RNPs, small nucleolar RNPs, small Cajal body-associated RNPs, signal recognition particles and telomerase. SMN also plays an important role in DNA repair, transcription, pre-mRNA splicing, histone mRNA processing, translation, selenoprotein synthesis, macromolecular trafficking, stress granule formation, cell signaling and cytoskeleton maintenance. The tissue-specific requirement of SMN is dictated by the variety and the abundance of its interacting partners. Reduced expression of SMN causes spinal muscular atrophy (SMA), a leading genetic cause of infant mortality. SMA displays a broad spectrum ranging from embryonic lethality to an adult onset. Aberrant expression and/or localization of SMN has also been associated with male infertility, inclusion body myositis, amyotrophic lateral sclerosis and osteoarthritis. This review provides a summary of various SMN functions with implications to a better understanding of SMA and other pathological conditions.