[Nonsense-mediated mRNA decay and human monogenic disease].
Nonsense-mediated mRNA decay (NMD) is a widespread quality control mechanism in eukaryotic cells. It can recognize and degrade aberrant transcripts harbouring a premature translational termination codon (PTC), and thereby prevent the production of C-terminally truncated proteins which might be deleterious. Approximately, 30% of human genetic diseases are caused by transcripts containing PTCs. These transcripts are potential targets of NMD. As for monogenic diseases, NMD has effects on the phenotype or mode of inheritance. Here, we explain the mechanism of this surveillance pathway, and take several neuromuscular disorders as examples to discuss its influence for human monogenic diseases.  The deeper understanding for NMD will shed light on the nosogenesis and therapies of monogenic diseases.
Department of Medical Genetics, Shanghai Jiao Tong University School of Medicine, Shanghai, China. guowenting2010@126.com
Wen-Ting
WT
Guo
Wang-Yang
WY
Xu
Ming-Min
MM
Gu
D000818:Animals; D018389:Codon, Nonsense / Q000235:genetics* / Q000378:metabolism*; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D059365:Nonsense Mediated mRNA Decay / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics* / Q000378:metabolism*
D018389:Codon, Nonsense; D012333:RNA, Messenger