Nonsense-mediated mRNA decay in mammals

Journal of Cell Science

Volumn 118, Issue 9, 2005, Pages 1773-1776

  Maquat, Lynne E ^a  

^a UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; CAP BINDING PROTEIN; DNA; INITIATION FACTOR 4E; MESSENGER RNA; NUCLEOTIDE; POLYADENYLIC ACID BINDING PROTEIN; SELENOPROTEIN; TELOMERASE;

3' UNTRANSLATED REGION; ARTICLE; CELL FRACTIONATION; CODON; DNA DAMAGE; EXON; GENE EXPRESSION; GENETIC DISORDER; GENETIC TRANSCRIPTION; HUMAN; INTRON; MAMMAL CELL; NONHUMAN; NONSENSE MUTATION; OPEN READING FRAME; PRIORITY JOURNAL; PROTEIN DEPHOSPHORYLATION; PROTEIN FUNCTION; RNA DEGRADATION; RNA SPLICING; RNA TRANSLATION; TELOMERE; THALASSEMIA; TRANSLATION INITIATION;

ANIMALS; CODON, NONSENSE; CYTOPLASM; EXONS; HUMANS; MICE; MODELS, BIOLOGICAL; MUTATION; RNA, MESSENGER; SUBCELLULAR FRACTIONS;

MAMMALIA;

EID: 19444368979     PISSN: 00219533     EISSN: None     Source Type: Journal    
DOI: 10.1242/jcs.01701     Document Type: Article

References (64)

1. Anders, K. R., Grimson, A. and Anderson P. (2003). SMG-5, required for C. elegans nonsense-mediated mRNA decay, associates with SMG-2 and protein phosphatase 2A. EMBO J. 22, 641-650.
2. Belgrader, P., Cheng, J., Zhou, X., Stephenson, L. S. and Maquat, L. E. (1994). Mammalian nonsense codons can be cis effectors of nuclear mRNA half-life. Mol. Cell. Biol. 14, 8219-8228.
3. Bhattacharya, A., Czaplinski, K., Trifillis, P., He, F., Jacobson, A. and Peltz, S. W. (2000). Characterization of the biochemical properties of the human Upf1 gene product that is involved in nonsense-mediated mRNA decay. RNA 6, 1226-1235.
4. Bono, F., Ebert, J., Unterholzner, L., Guttler, T., Izaurralde, E. and Conti, E. (2004). Molecular insights into the interaction of PYM with the Mago-Y14 core of the exon junction complex. EMBO Rep. 5, 304-310.
5. Brocke, K. S., Neu-Yilik, G., Gehring, N. H., Hentze, M. W. and Kulozik, A. E. (2002). The human intronless melanocortin 4-receptor gene is NMD insensitive. Hum. Mol. Genet. 11, 331-335.
6. Brumbaugh, K. M., Otterness, D. M., Geisen, C., Oliveira, V., Brognard, J., Li, X., Lejeune, F., Maquat, L. E. and Abraham, R. T. (2004). The mRNA surveillance protein, hSMG-1, functions in genotoxic stress response pathways in mammalian cells. Mol. Cell 14, 585-598.
7. Carastro, L. M., Tan, C. K., Selg, M., Jack, H. M., So, A. G. and Downey, K. M. (2002). Identification of delta helicase as the bovine homolog of HUPF1: demonstration of an interaction with the third subunit of DNA polymerase delta. Nucleic Acids Res. 30, 2232-2243.
8. Chan, C. C., Dostie, J., Diem, M. D., Feng, W., Mann, M., Rappsilber, J. and Dreyfuss, G. (2004). eIF4A3 is a novel component of the exon junction complex. RNA 10, 200-209.
9. Chen, C. Y. and Shyu, A.-B. (2003). Rapid deadenylation triggered by a nonsense codon precedes decay of the RNA body in a mammalian cytoplasmic nonsense-mediated decay pathway. Mol. Cell. Biol. 23, 4805-4813.
10. Cheng, J. and Maquat, L. E. (1993). 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. 13, 1892-1902.
11. Chiu, S. Y., Serin, G., Ohara, O. and Maquat, L. E. (2003). Characterization of human Smg5/7a: A protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1. RNA 9, 77-87.
12. Chiu, S. Y., Lejeune, F., Ranganathan, A. C. and Maquat, L. E. (2004). The pioneer translation initiation complex is functionally distinct from but structurally overlaps with the steady-state translation initiation complex. Genes Dev. 18, 745-754.
13. Cougot, N., Babajko, S. and Seraphin, B. (2004). Cytoplasmic foci are sites of mRNA decay in human cells. J. Cell. Biol. 165, 31-40.
14. Custodio, N., Carvalho, C., Condado, I., Antoniou, M., Blencowe, B. J. and Carmo-Fonseca, M. (2004). In vivo recruitment of exon junction complex proteins to transcription sites in mammalian cell nuclei. RNA 10, 622-633.
15. Dahlberg, J. E., Lund, E. and Goodwin, E. B. (2003). Nuclear translation: what is the evidence? RNA 9, 1-8.
16. Degot, S., le Hir, H., Alpy, F., Kedinger, V., Stoll, I., Wendling, C., Seraphin, B., Rio, M. C. and Tomasetto, C. (2004). Association of the breast cancer protein MLN51 with the exon junction complex via its speckle localizer and RNA binding module. J Biol. Chem. 279, 33702-33715.
17. Denning, G., Jamieson, L., Maquat, L. E., Thompson, E. A. and Fields, A. P. (2001). Cloning of a novel phosphatidylinositol kinase-related kinase: characterization of the human SMG-1 RNA surveillance protein. J Biol. Chem. 276, 22709-22714.
18. Dostie, J. and Dreyfuss, G. (2002). Translation is required to remove Y14 from mRNAs in the cytoplasm. Curr. Biol. 12, 1060-1067.
19. Dreumont, N., Maresca, A., Khandjian, E. W., Baklouti, F. and Tanguay, R. M. (2004). Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase. Biochem. Biophys. Res. Commun. 324, 186-192.
20. Ferraiuolo, M. A., Lee, C. S., Ler, L. W., Hsu, J. L., Costa-Mattioli, M., Luo, M. J., Reed, R. and Sonenberg, N. (2004). A nuclear translation-like factor eIF4AIII is recruited to the mRNA during splicing and functions in nonsense-mediated decay. Proc. Natl. Acad. Sci. USA 101, 4118-4123.
21. Gatfield, D., Unterholzner, L., Ciccarelli, F. D., Bork, P. and Izaurralde, E. (2003). Nonsense-mediated mRNA decay in Drosophila: at the intersection of the yeast and mammalian pathways. EMBO J. 22, 3960-3970.
22. Gehring, N. H., Neu-Yilik, G., Schell. T., Hentze. M. W. and Kulozik, A. E. (2003). Y14 and hUpf3b form an NMD-activating complex. Mol. Cell 11, 939-949.
23. Grimson, A., O'Connor, S., Newman, C. L. and Anderson, P. (2004). SMG-1 is a phosphatidylinositol kinase-related protein kinase required for nonsense-mediated mRNA decay in Caenorhabditis elegans. Mol. Cell. Biol. 24, 7483-7490.
24. Gudikote, J. P. and Wilkinson, M. F. (2002). T-cell receptor sequences that elicit strong down-regulation of premature termination codon-bearing transcripts. EMBO J. 21, 125-134.
25. Hillman, R. T., Green, R. E. and Brenner, S. E. (2004). An unappreciated role for RNA surveillance. Genome Biol. 5, R8.
26. Ingelfinger, D., Arndt-Jovin, D. J., Luhrmann, R. and Achsel, T. (2002). The human LSm1-7 proteins colocalize with the mRNA-degrading enzymes Dcp1/2 and Xrnl in disfinct cytoplasmic foci. RNA 8, 1489-1501.
27. Ishigaki, Y., Li, X., Serin, G. and Maquat, L. E. (2001). Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20. Cell 106, 607-617.
28. Kadlec, J., Izaurralde, E. and Cusack, S. (2004). The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3. Nat. Struct. Mol. Biol. 11, 330-337.
29. Kataoka, N., Yong, J., Kim, V. N., Velazquez, F., Perkinson, R. A., Wang, F. and Dreyfuss, G. (2000). Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA-binding protein that persists in the cytoplasm. Mol. Cell 6, 673-682.
30. Kim, V. N., Kataoka, N. and Dreyfuss, G. (2001). Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex. Science 293, 1832-1836.
31. Kim, Y. K., Furic, L., DesGroseillers, L. and Maquat, L. E. (2005). Mammalian Staufen1 recruits Upf1 to specific mRNA 3′UTRs so as to elicit mRNA decay. Cell 120, 195-208.
32. Le Hir, H., Izaurralde, E., Maquat, L. E. and Moore, M. J. (2000a). The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions. EMBO J. 19, 6860-6869.
33. Le Hir, H., Moore, M. J. and Maquat, L. E. (2000b). Pre-mRNA splicing alters mRNP composition: evidence for stable association of proteins at exon-exon junctions. Genes Dev. 14, 1098-1108.
34. Le Hir, H., Gatfield, D., Izaurralde, E. and Moore, M. J. (2001). The exon-exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay. EMBO J. 20, 4987-4997.
35. Lejeune, F., Ishigaki, Y., Li, X. and Maquat, L. E. (2002). The exon junction complex is detected on CBP80-bound but not eIF4E-bound mRNA in mammalian cells: dynamics of mRNP remodeling. EMBO J. 21, 3536-3545.
36. Lejeune, F., Li, X. and Maquat, L. E. (2003). Nonsense-mediated mRNA decay in mammalian cells involves decapping, deadenylating, and exonucleolytic activities. Mol. Cell 12, 675-687.
37. Lejeune, F., Ranganathan, A. C. and Maquat, L. E. (2004). eIF4G is required for the pioneer round of translation in mammalian cells. Nat. Struct. Mol. Biol. 11, 992-1000.
38. Li, C., Lin, R. I., Lai, M. C., Ouyang, P. and Tarn, W. Y. (2003). Nuclear Pnn/DRS protein binds to spliced mRNPs and participates in mRNA processing and export via interaction with RNPS1. Mol. Cell. Biol. 23, 7363-7376.
39. Luo, M. L., Zhou, Z., Magni, K., Christoforides, C., Rappsilber, J., Mann, M. and Reed, R. (2001). Pre-mRNA splicing and mRNA export linked by direct interactions between UAP56 and Aly. Nature 413, 644-647.
40. Lykke-Andersen, J., Shu, M. D. and Steitz, J. A. (2000). Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon. Cell 103, 1121-1131.
41. Lykke-Andersen, J., Shu, M. D. and Steitz, J. A. (2001). Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1. Science 293, 1836-1839.
42. Maquat, L. E. (2002). NASty effects on fibrillin pre-mRNA splicing: another case of ESE does it, but proposals for translation-dependent splice site choice live on. Genes Dev. 16, 1743-1753.
43. Maquat, L. E. (2004a). Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat. Rev. Mol. Cell. Biol. 5, 89-99.
44. Maquat, L. E. (2004b). Nonsense-mediated mRNA decay: a comparative analysis of different species. Curr. Genomics 5, 175-190.
45. Maquat, L. E. and Li, X. (2001). Mammalian heat shock p70 and histone H4 transcripts, which derive from naturally intronless genes, are immune to nonsense-mediated decay. RNA 7, 445-456.
46. Medghalchi, S. M., Frischmeyer, P. A., Mendell, J. T., Kelly, A. G., Lawler, A. M. and Dietz, H. C. (2001). Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability. Hum. Mol. Genet. 10, 99-105.
47. Mendell, J. T., Medghalchi, S. M., Lake, R. G., Noensie, E. N. and Dietz, H. C. (2000). Novel Upf2p orthologues suggest a functional link between translation initiation and nonsense surveillance complexes. Mol. Cell. Biol. 20, 8944-8957.
48. Mendell, J. T., ap Rhys, C. M. and Dietz, H. C. (2002). Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts. Science 298, 419-422.
49. Mendell, J. T., Sharifi, N. A., Meyers, J. L., Martinez-Murillo, F. and Dietz, H. C. (2004). Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Nat. Genet. 36, 1073-1078.
50. Moriarty, P. M., Reddy, C. C. and Maquat, L. E. (1998). Selenium deficiency reduces the abundance of mRNA for Se-dependent glutathione peroxidase 1 by a UGA-dependent mechanism likely to be nonsense codon-mediated decay of cytoplasmic mRNA. Mol. Cell. Biol. 18, 2932-2939.
51. Nagy, E. and Maquat, L. E. (1998). A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem. Sci. 23, 198-199.
52. Ohnishi, T., Yamashita, A., Kashima, I., Schell, T., Anders, K. R., Grimson, A., Hachiya, T., Hentze, M. W., Anderson, P. and Ohno, S. (2003). Phosphorylation of hUPF1 induces formation of mRNA surveillance complexes containing hSMG-5 and hSMG-7. Mol. Cell 12, 1187-1200.
53. Page, M. F., Carr, B., Anders, K. R., Grimson, A. and Anderson, P. (1999). SMG-2 is a phosphorylated protein required for mRNA surveillance in Caenorhabditis elegans and related to Upf1p of yeast. Mol. Cell. Biol. 19, 5943-5951.
54. Pal, M., Ishigaki, Y., Nagy, E. and Maquat, L. E. (2001). Evidence that phosphorylation of human Upf1 protein varies with intracellular location and is mediated by a wortmannin-sensitive and rapamycin-sensitive PI 3-kinase-related kinase signaling pathway. RNA 7, 5-15.
55. Palacios, I. M., Gatfield, D., St Johnston, D. and Izaurralde, E. (2004). An eIF4AIII-containing complex required for mRNA localization and nonsense-mediated mRNA decay. Nature 427, 753-757.
56. Reichenbach, P., Hoss, M., Azzalin, C. M., Nabholz, M., Bucher, P. and Lingner, J. (2003). A human homolog of yeast Est1 associates with telomerase and uncaps chromosome ends when overexpressed. Curr. Biol. 13, 568-574.
57. Schell, T., Kocher, T., Wilm, M., Seraphin, B., Kulozik, A. E. and Hentze, M. W. (2003). Complexes between the nonsense-mediated mRNA decay pathway factor human upf1 (up-frameshift protein 1) and essential nonsense-mediated mRNA decay factors in HeLa cells. Biochem. J. 373, 775-783.
58. Serin, G., Gersappe, A., Black, J. D., Aronoff, R. and Maquat, L. E. (2001). Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4): Mol. Cell. Biol. 21, 209-223.
59. Shibuya, T., Tange, T. O., Sonenberg, N. and Moore, M. J. (2004). eIF4AIII binds spliced mRNA in the exon junction complex and is essential for nonsense-mediated decay. Nat. Struct. Mol. Biol. 11, 346-351.
60. Snow, B. E., Erdmann, N., Cruickshank, J., Goldman, H., Gill, R. M., Robinson, M. O. and Harrington, L. (2003). Functional conservation of the telomerase protein Est1p in humans. Curr. Biol. 13, 698-704.
61. Sun, X., Perlick, H. A., Dietz, H. C. and Maquat, L. E. (1998). 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 95, 10009-10014.
62. Thein, S. L. (2004). Genetic insights into the clinical diversity of beta thalassaemia. Br. J. Haematol. 124, 264-274.
63. Wang, J., Chang, Y. F., Hamilton, J. I. and Wilkinson, M. F. (2002). Nonsense-associated altered splicing: a frame-dependent response distinct from nonsense-mediated decay. Mol. Cell 10, 951-957.
64. Yamashita, A., Ohnishi, T., Kashima, I., Taya, Y. and Ohno, S. (2001). Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay. Genes Dev. 15, 2215-2228.