Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway

Culbertson MR: RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet. 1999, 15: 74-80. 10.1016/S0168-9525(98)01658-8. Hall GW, Thein S: Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia. Blood. 1994, 83: 2031-2037. Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Komec R, Mundlos S: Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am J Hum Genet. 2000, 67: 822-831. 10.1086/303084. Li S, Wilkinson MF: Nonsense surveillance in lymphocytes?. Immunity. 1998, 8: 135-141. Czaplinski K, Ruiz-Echevarria MJ, Gonzalez CI, Peltz SW: Should we kill the messenger? The role of the surveillance complex in translation termination and mRNA turnover. BioEssays. 1999, 21: 685-696. 10.1002/(SICI)1521-1878(199908)21:8<685::AID-BIES8>3.3.CO;2-W. Applequist SE, Selg M, Raman C, Jack HM: Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein. Nucleic Acids Res. 1997, 25: 814-821. 10.1093/nar/25.4.814. Sun X, Perlick HA, Dietz HC, Maquat LE: A mutated human homologue to yeast Upf1 protein has a dominant-negative effect on the decay of nonsense-containing mRNAs in mammalian cells. Proc Natl Acad Sci USA. 1998, 95: 10009-10014. 10.1073/pnas.95.17.10009. Mendell JT, Medghalchi SM, Lake RG, Noensie EN, Dietz HC: Novel Upf2p orthologues suggest a functional link between translation initiation and nonsense surveillance complexes. Mol Cell Biol. 2000, 20: 8944-8957. 10.1128/MCB.20.23.8944-8957.2000. Lykke-Andersen J, Shu M, Steitz JA: Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon. Cell. 2000, 103: 1121-1131. Serin G, Gersappe A, Black JD, Aronoff R, Maquat LE: Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4). Mol Cell Biol. 2001, 21: 209-223. 10.1128/MCB.21.1.209-223.2001. Pal M, Ishigaki Y, Nagy E, Maquat LE: Evidence that phosphorylation of human upfl protein varies with intracellular location and is mediated by a wortmannin-sensitive and rapamycin-sensitive PI 3-kinase-related kinase signaling pathway. RNA. 2001, 7: 5-15. 10.1017/S1355838201000127. Czaplinski K, Ruiz-Echevarria MJ, Paushkin SV, Han X, Weng Y, Perlick HA, Dietz HC, Ter-Avanesyan MD, Peltz SW: The surveillance complex interacts with the translation release factors to enhance termination and degrade aberrant mRNAs. Genes Dev. 1998, 12: 1665-1677. Hentze MW, Kulozik AE: A perfect message: RNA surveillance and nonsense-mediated decay. Cell. 1999, 96: 307-310. Maquat LE: Nonsense-mediated RNA decay in mammalian cells: a splicing-dependent means to down-regulate the levels of mRNAs that prematurely terminate translation. In Translational control. Edited by Hershey JWB, Mathews MB, Sonenberg N. Cold Spring Harbor: Cold Spring Harbor Laboratory Press,. Edited by: Hershey JWB, Mathews MB, Sonenberg N. 2000, Cold Spring Harbor: Cold Spring Harbor Laboratory Press, 849-868. Maquat LE, Li X: Mammalian heat shock p70 and histone H4 transcripts, which derive from naturally intronless genes, are immune to nonsense-mediated decay. RNA. 2001, 7: 445-456. 10.1017/S1355838201002229. Brocke KS, Neu-Yilik G, Gehring NH, Hentze MW, Kulozik AE: The human intronless melanocortin 4-receptor gene is NMD insensitive. Hum Mol Genet. 2002, 11: 331-335. 10.1093/hmg/11.3.331. Neu-Yilik G, Gehring NH, Thermann R, Frede U, Hentze MW, Kulozik AE: Splicing and 3' end formation in the definition of nonsense-mediated decay-competent human β-globin mRNPs. EMBO J. 2001, 20: 532-540. 10.1093/emboj/20.3.532. Thermann R, Neu-Yilik G, Deters A, Frede U, Wehr K, Hagemeier C, Hentze MW, Kulozik AE: Binary specification of nonsense codons by splicing and cytoplasmic translation. EMBO J. 1998, 17: 3484-3494. 10.1093/emboj/17.12.3484. Carter MS, Li S, Wilkinson MF: A splicing-dependent regulatory mechanism that detects translation signals. EMBO J. 1996, 15: 5965-5975. Nagy E, Maquat LE: A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci. 1998, 23: 198-199. 10.1016/S0968-0004(98)01208-0. Hilleren P, Parker R: Mechanisms of mRNA surveillance in eukaryotes. Annu Rev Genet. 1999, 33: 229-260. 10.1146/annurev.genet.33.1.229. Le Hir H, Moore MJ, Maquat LE: Pre-mRNA splicing alters mRNP composition: evidence for stable association of proteins at exon-exon junctions. Genes Dev. 2000, 14: 1098-1108. Le Hir H, Gatfield D, Izaurralde E, Moore MJ: The exon-exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay. EMBO J. 2001, 20: 4987-4997. 10.1093/emboj/20.17.4987. Conti E, Izaurralde E: Nucleocytoplasmic transport enters the atomic age. Curr Opin Cell Biol. 2001, 13: 310-319. 10.1016/S0955-0674(00)00213-1. Lykke-Andersen J, Shu MD, Steitz JA: Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1. Science. 2001, 293: 1836-1839. 10.1126/science.1062786. Kim VN, Kataoka N, Dreyfuss G: Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex. Science. 2001, 293: 1832-1836. 10.1126/science.1062829. Iborra FJ, Jackson DA, Cook PR: Coupled transcription and translation within nuclei of mammalian cells. Science. 2001, 293: 1139-1142. 10.1126/science.1061216. Hentze MW: Protein synthesis. Believe it or not-translation in the nucleus. Science. 2001, 293: 1058-1059. 10.1126/science.1063290. Cheng J, Maquat LE: Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA. Mol Cell Biol. 1993, 13: 1892-1902. Lewis JD, Izaurralde E: The role of the cap structure in RNA processing and nuclear export. Eur J Biochem. 1997, 247: 461-469. Mehlin H, Daneholt B, Skoglund U: Translocation of a specific premessenger ribonucleoprotein particle through the nuclear pore studied with electron microscope tomography. Cell. 1992, 69: 605-613. Fortes P, Inada T, Preiss T, Hentze MW, Mattaj IW, Sachs AB: The yeast nuclear cap binding complex can interact with translation factor eIF4G and mediate translation initiation. Mol Cell. 2000, 6: 191-196. McKendrick L, Thompson E, Ferreira J, Morley SJ, Lewis JD: Interaction of eukaryotic translation initiation factor 4G with the nuclear cap-binding complex provides a link between nuclear and cytoplasmic functions of the m(7) guanosine cap. Mol Cell Biol. 2001, 21: 3632-3641. 10.1128/MCB.21.11.3632-3641.2001. Ishigaki Y, Li X, Serin G, Maquat LE: Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20. Cell. 2001, 106: 607-617. Das B, Guo Z, Russo P, Chartrand P, Sherman F: The role of nuclear cap binding protein Cbc1p of yeast in mRNA termination and degradation. Mol Cell Biol. 2000, 20: 2827-2838. 10.1128/MCB.20.8.2827-2838.2000.