Khajavi Mehrdad, Inoue Ken, Lupski James R
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Eur J Hum Genet. 2006 Oct;14(10):1074-81. doi: 10.1038/sj.ejhg.5201649. Epub 2006 Jun 7.
The nonsense-mediated decay (NMD) pathway is an mRNA surveillance system that typically degrades transcripts containing premature termination codons (PTCs) in order to prevent translation of unnecessary or aberrant transcripts. Failure to eliminate these mRNAs with PTCs may result in the synthesis of abnormal proteins that can be toxic to cells through dominant-negative or gain-of-function effects. Recent studies have expanded our understanding of the mechanism by which nonsense transcripts are recognized and targeted for decay. Here, we review the physiological role of this surveillance pathway, its implications for human diseases, and why knowledge of NMD is important to an understanding of genotype-phenotype correlations in various genetic disorders.
无义介导的mRNA降解（NMD）途径是一种mRNA监测系统，通常会降解含有提前终止密码子（PTC）的转录本，以防止不必要或异常转录本的翻译。未能消除这些含有PTC的mRNA可能会导致异常蛋白质的合成，这些异常蛋白质可通过显性负效应或功能获得效应对细胞产生毒性。最近的研究扩展了我们对无义转录本被识别并靶向降解机制的理解。在这里，我们综述了这一监测途径的生理作用、其对人类疾病的影响，以及为什么了解NMD对于理解各种遗传疾病中的基因型-表型相关性很重要。
