前体 mRNA 处理受损和 3'非翻译区结构改变导致人类疾病的发生。
Impaired pre-mRNA processing and altered architecture of 3' untranslated regions contribute to the development of human disorders.
机构信息
Regional Centre for Applied Molecular Oncology, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
出版信息
Int J Mol Sci. 2013 Jul 26;14(8):15681-94. doi: 10.3390/ijms140815681.
Abstract
The biological fate of each mRNA and consequently, the protein to be synthesised, is highly dependent on the nature of the 3' untranslated region. Despite its non-coding character, the 3' UTR may affect the final mRNA stability, the localisation, the export from the nucleus and the translation efficiency. The conserved regulatory sequences within 3' UTRs and the specific elements binding to them enable gene expression control at the posttranscriptional level and all these processes reflect the actual state of the cell including proliferation, differentiation, cellular stress or tumourigenesis. Through this article, we briefly outline how the alterations in the establishment and final architecture of 3' UTRs may contribute to the development of various disorders in humans.
摘要
每个 mRNA 的生物学命运，以及随之合成的蛋白质，高度依赖于 3' 非翻译区的性质。尽管它是非编码的，但 3' UTR 可能会影响最终的 mRNA 稳定性、定位、从核内输出和翻译效率。3' UTR 内的保守调节序列和与其结合的特定元件可在转录后水平上实现基因表达的控制，所有这些过程都反映了细胞的实际状态，包括增殖、分化、细胞应激或肿瘤发生。通过本文，我们简要概述了 3' UTR 建立和最终结构的改变如何导致人类各种疾病的发展。
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1
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2
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Biomed Res Int. 2013;2013:391821. doi: 10.1155/2013/391821. Epub 2013 Mar 18.
3
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