RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer.
Messenger RNAs are monitored for errors that arise during gene expression by a mechanism called RNA surveillance, with the result that most mRNAs that cannot be translated along their full length are rapidly degraded. This ensures that truncated proteins are seldom made, reducing the accumulation of rogue proteins that might be deleterious. The pathway leading to accelerated mRNA decay is referred to as nonsense-mediated mRNA decay (NMD). The proteins that catalyze steps in NMD in yeast serve two roles, one to monitor errors in gene expression and the other to control the abundance of endogenous wild-type mRNAs as part of the normal repertoire of gene expression. The NMD pathway has a direct impact on hundreds of genetic disorders in the human population, where about a quarter of all known mutations are predicted to trigger NMD.
Culbertson
M R
MR
Laboratory of Genetics, R.M. Bock Laboratories, University of Wisconsin, Madison 53706, USA. mrculber@facstaff.wisc.edu
D000818:Animals; D001483:Base Sequence; D003062:Codon; D005656:Fungal Proteins / Q000502:physiology; D005786:Gene Expression Regulation / Q000502:physiology*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D015801:Helminth Proteins / Q000502:physiology; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009369:Neoplasms / Q000235:genetics*; D009690:Nucleic Acid Conformation; D010443:Peptide Chain Termination, Translational / Q000502:physiology*; D010454:Peptide Termination Factors / Q000502:physiology; D020365:RNA Helicases / Q000502:physiology; D012323:RNA Processing, Post-Transcriptional; D012331:RNA, Fungal / Q000235:genetics / Q000378:metabolism; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism*; D016601:RNA-Binding Proteins; D012441:Saccharomyces cerevisiae / Q000235:genetics; D029701:Saccharomyces cerevisiae Proteins; D015534:Trans-Activators
D003062:Codon; C489002:ETF1 protein, human; C489003:Etf1 protein, mouse; D005656:Fungal Proteins; D015801:Helminth Proteins; D010454:Peptide Termination Factors; D012331:RNA, Fungal; D012333:RNA, Messenger; D016601:RNA-Binding Proteins; C484446:Rent1 protein, mouse; D029701:Saccharomyces cerevisiae Proteins; D015534:Trans-Activators; C096360:UPF3 protein, S cerevisiae; C087971:peptide-chain-release factor 3; C074151:NAM7 protein, S cerevisiae; D020365:RNA Helicases; C101828:UPF1 protein, human