Chapter 4 NMD. Multitasking Between mRNA Surveillance and Modulation of Gene Expression

Advances in Genetics

Volumn 62, Issue , 2008, Pages 185-243

  Neu Yilik, Gabriele ^a   Kulozik, Andreas E ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; TRANSCRIPTION FACTOR;

ANIMAL; BIOLOGICAL MODEL; GENE EXPRESSION REGULATION; GENETICS; GENOMIC INSTABILITY; HUMAN; METABOLISM; PHYSIOLOGY; PROTEIN SYNTHESIS; REVIEW; RNA PROCESSING; RNA STABILITY; SIGNAL TRANSDUCTION; STOP CODON;

ANIMALS; CODON, NONSENSE; GENE EXPRESSION REGULATION; GENOMIC INSTABILITY; HUMANS; MODELS, BIOLOGICAL; PROTEIN BIOSYNTHESIS; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA STABILITY; RNA, MESSENGER; SIGNAL TRANSDUCTION; TRANSCRIPTION FACTORS;

EID: 56049126683     PISSN: 00652660     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S0065-2660(08)00604-4     Document Type: Review

References (221)

1. Abraham R.T. The ATM-related kinase, hSMG-1, bridges genome and RNA surveillance pathways. DNA Repair (Amst.) 3 (2004) 919-925
2. Ainsworth C. Nonsense mutations: Running the red light. Nature 438 (2005) 726-728
3. Amrani N., Ganesan R., Kervestin S., Mangus D.A., Ghosh S., and Jacobson A. A faux 3′-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay. Nature 432 (2004) 112-118
4. Anders K.R., Grimson A., and Anderson P. SMG-5, required for C. elegans nonsense-mediated mRNA decay, associates with SMG-2 and protein phosphatase 2A. EMBO J. 22 (2003) 641-650
5. Arakawa M., Shiozuka M., Nakayama Y., Hara T., Hamada M., Kondo S., Ikeda D., Takahashi Y., Sawa R., Nonomura Y., Sheykholeslami K., Kondo K., et al. Negamycin restores dystrophin expression in skeletal and cardiac muscles of mdx mice. J. Biochem. (Tokyo) 134 (2003) 751-758
6. Arciga-Reyes L., Wootton L., Kieffer M., and Davies B. UPF1 is required for nonsense-mediated mRNA decay (NMD) and RNAi in Arabidopsis. Plant J. 47 (2006) 480-489
7. Asselta R., Duga S., Spena S., Santagostino E., Peyvandi F., Piseddu G., Targhetta R., Malcovati M., Mannucci P.M., and Tenchini M.L. Congenital afibrinogenemia: Mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs. Blood 98 (2001) 3685-3692
8. Atkin A.L., Schenkman L.R., Eastham M., Dahlseid J.N., Lelivelt M.J., and Culbertson M.R. Relationship between yeast polyribosomes and Upf proteins required for nonsense mRNA decay. J. Biol. Chem. 272 (1997) 22163-22172
9. Azzalin C.M., and Lingner J. The double life of UPF1 in RNA and DNA stability pathways. Cell Cycle 5 (2006) 1496-1498
10. Azzalin C.M., and Lingner J. The human RNA surveillance factor UPF1 is required for S phase progression and genome stability. Curr. Biol. 16 (2006) 433-439
11. Azzalin C.M., Redon S., and Lingner J. S. cerevisiae Est1/H. sapiens SMG6 protein family members function in telomere metabolism. In: Maquat L.E. (Ed). Nonsense-Mediated mRNA Decay (2006), Eurekah/Landes Bioscience, Georgetown, Texas, USA
12. Bamber B.A., Beg A.A., Twyman R.E., and Jorgensen E.M. The Caenorhabditis elegans unc-49 locus encodes multiple subunits of a heteromultimeric GABA receptor. J. Neurosci. 19 (1999) 5348-5359
13. Banihashemi L., Wilson G.M., Das N., and Brewer G. Upf1/Upf2 regulation of 3′untranslated region splice variants of AUF1 links nonsense-mediated and A+U-rich element-mediated mRNA decay. Mol. Cell Biol. 26 (2006) 8743-8754
14. Baron-Benhamou J., Gehring N.H., Kulozik A.E., and Hentze M.W. Using the lambdaN peptide to tether proteins to RNAs. Methods Mol. Biol. 257 (2004) 135-154
15. Barton-Davis E.R., Cordier L., Shoturma D.I., Leland S.E., and Sweeney H.L. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J. Clin. Invest. 104 (1999) 375-381
16. Bateman J.F., Freddi S., Nattrass G., and Savarirayan R. Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. Hum. Mol. Genet. 12 (2003) 217-225
17. Bedwell D.M., Kaenjak A., Benos D.J., Bebok Z., Bubien J.K., Hong J., Tousson A., Clancy J.P., and Sorscher E.J. Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line. Nat. Med. 3 (1997) 1280-1284
18. Behm-Ansmant I., and Izaurralde E. NMD in Drosophila: A snapshot into the evolution of a conserved mRNA surveillance pathway. In: Maquat L.E. (Ed). Nonsense-Mediated mRNA Decay (2006), Landes Bioscience, Georgetown, Texas 153-163
19. Behm-Ansmant I., and Izaurralde E. Quality control of gene expression: A stepwise assembly pathway for the surveillance complex that triggers nonsense-mediated mRNA decay. Genes Dev. 20 (2006) 391-398
20. Bhattacharya A., Czaplinski K., Trifillis P., He F., Jacobson A., and Peltz S.W. Characterization of the biochemical properties of the human Upf1 gene product that is involved in nonsense-mediated mRNA decay. RNA 6 (2000) 1226-1235
21. Bidou L., Hatin I., Perez N., Allamand V., Panthier J.J., and Rousset J.P. Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment. Gene Ther. 11 (2004) 619-627
22. Borman A.M., Michel Y.M., and Kean K.M. Biochemical characterisation of cap-poly(A) synergy in rabbit reticulocyte lysates: The eIF4G-PABP interaction increases the functional affinity of eIF4E for the capped mRNA 5′-end. Nucleic Acids Res. 28 (2000) 4068-4075
23. Bremer K.A., Stevens A., and Schoenberg D.R. An endonuclease activity similar to Xenopus PMR1 catalyzes the degradation of normal and nonsense-containing human beta-globin mRNA in erythroid cells. RNA 9 (2003) 1157-1167
24. Brocke K.S., Neu-Yilik G., Gehring N.H., Hentze M.W., and Kulozik A.E. The human intronless melanocortin 4-receptor gene is NMD insensitive. Hum. Mol. Genet. 11 (2002) 331-335
25. Brogna S. Nonsense mutations in the alcohol dehydrogenase gene of Drosophila melanogaster correlate with an abnormal 3′ end processing of the corresponding pre-mRNA. RNA 5 (1999) 562-573
26. Brumbaugh K.M., Otterness D.M., Geisen C., Oliveira V., Brognard J., Li X., Lejeune F., Tibbetts R.S., Maquat L.E., and Abraham R.T. The mRNA surveillance protein hSMG-1 functions in genotoxic stress response pathways in mammalian cells. Mol. Cell. 14 (2004) 585-598
27. Buhler M., Paillusson A., and Muhlemann O. Efficient downregulation of immunoglobulin mu mRNA with premature translation-termination codons requires the 5′-half of the VDJ exon. Nucleic Acids Res. 32 (2004) 3304-3315
28. Buhler M., Steiner S., Mohn F., Paillusson A., and Muhlemann O. EJC-independent degradation of nonsense immunoglobulin-mu mRNA depends on 3′ UTR length. Nat. Struct. Mol. Biol. 13 (2006) 462-464
29. Buisson M., Anczukow O., Zetoune A.B., Ware M.D., and Mazoyer S. The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon. Hum. Mutat. 27 (2006) 1024-1029
30. Buzina A., and Shulman M.J. Infrequent translation of a nonsense codon is sufficient to decrease mRNA level. Mol. Biol. Cell 10 (1999) 515-524
31. Cali B.M., Kuchma S.L., Latham J., and Anderson P. smg-7 is required for mRNA surveillance in Caenorhabditis elegans. Genetics 151 (1999) 605-616
32. Cao D., and Parker R. Computational modeling and experimental analysis of nonsense-mediated decay in yeast. Cell 113 (2003) 533-545
33. Carastro L.M., Tan C.K., Selg M., Jack H.M., So A.G., and Downey K.M. 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 (2002) 2232-2243
34. Cardinali M., Kratochvil F.J., Ensley J.F., Robbins K.C., and Yeudall W.A. Functional characterization in vivo of mutant p53 molecules derived from squamous cell carcinomas of the head and neck. Mol. Carcinog. 18 (1997) 78-88
35. Cartegni L., and Krainer A.R. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat. Genet. 30 (2002) 377-384
36. Cartegni L., and Krainer A.R. Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat. Struct. Biol. 10 (2003) 120-125
37. Chan D., Weng Y.M., Graham H.K., Sillence D.O., and Bateman J.F. A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia. J. Clin. Invest. 101 (1998) 1490-1499
38. Chen C.Y., and Shyu A.B. 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 (2003) 4805-4813
39. Cheng Z., Muhlrad D., Lim M.K., Parker R., and Song H. Structural and functional insights into the human Upf1 helicase core. EMBO J. 26 (2007) 253-264
40. Chester A., Somasekaram A., Tzimina M., Jarmuz A., Gisbourne J., O'Keefe R., Scott J., and Navaratnam N. The apolipoprotein B mRNA editing complex performs a multifunctional cycle and suppresses nonsense-mediated decay. EMBO J. 22 (2003) 3971-3982
41. Chiu S.Y., Serin G., Ohara O., and Maquat L.E. Characterization of human Smg5/7a: A protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1. RNA 9 (2003) 77-87
42. Chiu S.Y., Lejeune F., Ranganathan A.C., and Maquat L.E. The pioneer translation initiation complex is functionally distinct from but structurally overlaps with the steady-state translation initiation complex. Genes Dev. 18 (2004) 745-754
43. Clancy J.P., Bebok Z., Ruiz F., King C., Jones J., Walker L., Greer H., Hong J., Wing L., Macaluso M., Lyrene R., Sorscher E.J., et al. Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am. J. Respir. Crit. Care Med. 163 (2001) 1683-1692
44. Conti E., and Izaurralde E. Nonsense-mediated mRNA decay: Molecular insights and mechanistic variations across species. Curr. Opin. Cell Biol. 17 (2005) 316-325
45. Cougot N., Babajko S., and Seraphin B. Cytoplasmic foci are sites of mRNA decay in human cells. J. Cell Biol. 165 (2004) 31-40
46. Couttet P., and Grange T. Premature termination codons enhance mRNA decapping in human cells. Nucleic Acids Res. 32 (2004) 488-494
47. Cuccurese M., Russo G., Russo A., and Pietropaolo C. Alternative splicing and nonsense-mediated mRNA decay regulate mammalian ribosomal gene expression. Nucleic Acids Res. 33 (2005) 5965-5977
48. Cui Y., Gonzalez C.I., Kinzy T.G., Dinman J.D., and Peltz S.W. Mutations in the MOF2/SUI1 gene affect both translation and nonsense-mediated mRNA decay. RNA 5 (1999) 794-804
49. Culbertson M.R., and Neeno-Eckwall E. Transcript selection and the recruitment of mRNA decay factors for NMD in Saccharomyces cerevisiae. RNA 11 (2005) 1333-1339
50. Czaplinski K., Weng Y., Hagan K.W., and Peltz S.W. Purification and characterization of the Upf1 protein: A factor involved in translation and mRNA degradation. RNA 1 (1995) 610-623
51. Czaplinski K., Ruiz-Echevarria M.J., Gonzalez C.I., and Peltz S.W. Should we kill the messenger? The role of the surveillance complex in translation termination and mRNA turnover. Bioessays 21 (1999) 685-696
52. Czaplinski K., Ruiz-Echevarria M.J., Paushkin S.V., Han X., Weng Y., Perlick H.A., Dietz H.C., Ter-Avanesyan M.D., and Peltz S.W. The surveillance complex interacts with the translation release factors to enhance termination and degrade aberrant mRNAs. Genes Dev. 12 (1998) 1665-1677
53. Dahlseid J.N., Lew-Smith J., Lelivelt M.J., Enomoto S., Ford A., Desruisseaux M., McClellan M., Lue N., Culbertson M.R., and Berman J. mRNAs encoding telomerase components and regulators are controlled by UPF genes in Saccharomyces cerevisiae. Eukaryot Cell 2 (2003) 134-142
54. Danckwardt S., Neu-Yilik G., Thermann R., Frede U., Hentze M.W., and Kulozik A.E. Abnormally spliced beta-globin mRNAs: A single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay. Blood 99 (2002) 1811-1816
55. Denecke J., Kranz C., Kemming D., Koch H.G., and Marquardt T. An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id). Hum. Mutat. 23 (2004) 477-486
56. Denning G., Jamieson L., Maquat L.E., Thompson E.A., and Fields A.P. Cloning of a novel phosphatidylinositol kinase-related kinase: Characterization of the human SMG-1 RNA surveillance protein. J. Biol. Chem. 276 (2001) 22709-22714
57. Domeier M.E., Morse D.P., Knight S.W., Portereiko M., Bass B.L., and Mango S.E. A link between RNA interference and nonsense-mediated decay in Caenorhabditis elegans. Science 289 (2000) 1928-1931
58. Dominski Z., and Kole R. Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides. Proc. Natl. Acad. Sci. USA 90 (1993) 8673-8677
59. Donnadieu E., Jouvin M.H., Rana S., Moffatt M.F., Mockford E.H., Cookson W.O., and Kinet J.P. Competing functions encoded in the allergy-associated F(c)epsilonRIbeta gene. Immunity 18 (2003) 665-674
60. Dostie J., and Dreyfuss G. Translation is required to remove Y14 from mRNAs in the cytoplasm. Curr. Biol. 12 (2002) 1060-1067
61. Du M., Jones J.R., Lanier J., Keeling K.M., Lindsey J.R., Tousson A., Bebok Z., Whitsett J.A., Dey C.R., Colledge W.H., Evans M.J., Sorscher E.J., et al. Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene. J. Mol. Med. 80 (2002) 595-604
62. Englert C., Vidal M., Maheswaran S., Ge Y., Ezzell R.M., Isselbacher K.J., and Haber D.A. Truncated WT1 mutants alter the subnuclear localization of the wild-type protein. Proc. Natl. Acad. Sci. USA 92 (1995) 11960-11964
63. Enokizono Y., Konishi Y., Nagata K., Ouhashi K., Uesugi S., Ishikawa F., and Katahira M. Structure of hnRNP D complexed with single-stranded telomere DNA and unfolding of the quadruplex by heterogeneous nuclear ribonucleoprotein D. J. Biol. Chem. 280 (2005) 18862-18870
64. Enomoto S., Glowczewski L., Lew-Smith J., and Berman J.G. Telomere cap components influence the rate of senescence in telomerase-deficient yeast cells. Mol. Cell Biol. 24 (2004) 837-845
65. Eulalio A., Behm-Ansmant I., and Izaurralde E. P bodies: At the crossroads of post-transcriptional pathways. Nat. Rev. Mol. Cell Biol. 8 (2007) 9-22
66. Eversole A., and Maizels N. In vitro properties of the conserved mammalian protein hnRNP D suggest a role in telomere maintenance. Mol. Cell Biol. 20 (2000) 5425-5432
67. Eystathioy T., Jakymiw A., Chan E.K., Seraphin B., Cougot N., and Fritzler M.J. The GW182 protein colocalizes with mRNA degradation associated proteins hDcp1 and hLSm4 in cytoplasmic GW bodies. RNA 9 (2003) 1171-1173
68. Fan S., Yuan R., Ma Y.X., Meng Q., Goldberg I.D., and Rosen E.M. Mutant BRCA1 genes antagonize phenotype of wild-type BRCA1. Oncogene 20 (2001) 8215-8235
69. Faustino N.A., and Cooper T.A. Pre-mRNA splicing and human disease. Genes Dev. 17 (2003) 419-437
70. Ford A.S., Guan Q., Neeno-Eckwall E., and Culbertson M.R. Ebs1p, a negative regulator of gene expression controlled by the Upf proteins in the yeast Saccharomyces cerevisiae. Eukaryot Cell 5 (2006) 301-312
71. Fortes P., Inada T., Preiss T., Hentze M.W., Mattaj I.W., and Sachs A.B. The yeast nuclear cap binding complex can interact with translation factor eIF4G and mediate translation initiation. Mol. Cell 6 (2000) 191-196
72. Fukuhara N., Ebert J., Unterholzner L., Lindner D., Izaurralde E., and Conti E. SMG7 is a 14-3-3-like adaptor in the nonsense-mediated mRNA decay pathway. Mol. Cell 17 (2005) 537-547
73. Gaba A., Jacobson A., and Sachs M.S. Ribosome occupancy of the yeast CPA1 upstream open reading frame termination codon modulates nonsense-mediated mRNA decay. Mol. Cell 20 (2005) 449-460
74. Gao Q., Das B., Sherman F., and Maquat L.E. Cap-binding protein 1-mediated and eukaryotic translation initiation factor 4E-mediated pioneer rounds of translation in yeast. Proc. Natl. Acad. Sci. USA 102 (2005) 4258-4263
75. Gatfield D., Unterholzner L., Ciccarelli F.D., Bork P., and Izaurralde E. Nonsense-mediated mRNA decay in Drosophila: At the intersection of the yeast and mammalian pathways. EMBO J. 22 (2003) 3960-3970
76. Gehring N.H., Neu-Yilik G., Schell T., Hentze M.W., and Kulozik A.E. Y14 and hUpf3b form an NMD-activating complex. Mol. Cell 11 (2003) 939-949
77. Gehring N.H., Kunz J.B., Neu-Yilik G., Breit S., Viegas M.H., Hentze M.W., and Kulozik A.E. Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements. Mol. Cell 20 (2005) 65-75
78. Glavan F., Behm-Ansmant I., Izaurralde E., and Conti E. Structures of the PIN domains of SMG6and SMG5 reveal a nuclease within the mRNA surveillance complex. EMBO J. 25 (2006) 5117-5125
79. Gonzalez C.I., Wang W., and Peltz S.W. Nonsense-mediated mRNA decay in Saccharomyces cerevisiae: A quality control mechanism that degrades transcripts harboring premature termination codons. Cold Spring Harb. Symp. Quant. Biol. 66 (2001) 321-328
80. Gonzalez C.I., Ruiz-Echevarria M.J., Vasudevan S., Henry M.F., and Peltz S.W. The yeast hnRNP-like protein Hrp1/Nab4 marks a transcript for nonsense-mediated mRNA decay. Mol. Cell 5 (2000) 489-499
81. Guan Q., Zheng W., Tang S., Liu X., Zinkel R.A., Tsui K.W., Yandell B.S., and Culbertson M.R. Impact of nonsense-mediated mRNA decay on the global expression profile of budding yeast. PLOS Genet. 2 (2006) e203
82. Gudikote J.P., and Wilkinson M.F. NMD and the immune system. In: Maquat L.E. (Ed). Nonsense-Mediated mRNA Decay (2006), Landes Bioscience, Georgetown, Texas 71-83
83. Hall G.W., and 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 83 (1994) 2031-2037
84. Hamed S.A. Drug evaluation: PTC-124-a potential treatment of cystic fibrosis and Duchenne muscular dystrophy. IDrugs 9 (2006) 783-789
85. Harding P.L., Fall A.M., Honeyman K., Fletcher S., and Wilton S.D. The influence of antisense oligonucleotide length on dystrophin exon skipping. Mol. Ther. 15 (2007) 157-166
86. Harries L.W., Bingham C., Bellanne-Chantelot C., Hattersley A.T., and Ellard S. The position of premature termination codons in the hepatocyte nuclear factor-1 beta gene determines susceptibility to nonsense-mediated decay. Hum. Genet. 118 (2005) 214-224
87. He F., Li X., Spatrick P., Casillo R., Dong S., and Jacobson A. Genome-wide analysis of mRNAs regulated by the nonsense-mediated and 5′ to 3′ mRNA decay pathways in yeast. Mol. Cell 12 (2003) 1439-1452
88. Hentze M.W., and Kulozik A.E. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 96 (1999) 307-310
89. Hilleren P., and Parker R. Mechanisms of mRNA surveillance in eukaryotes. Annu. Rev. Genet. 33 (1999) 229-260
90. Holbrook J.A., Neu-Yilik G., Hentze M.W., and Kulozik A.E. Nonsense-mediated decay approaches the clinic. Nat. Genet. 36 (2004) 801-808
91. Holbrook J.A., Neu-Yilik G., Gehring N.H., Kulozik A.E., and Hentze M.W. Internal ribosome entry sequence-mediated translation initiation triggers nonsense-mediated decay. EMBO Rep. 7 (2006) 722-726
92. Hori K., and Watanabe Y. UPF3 suppresses aberrant spliced mRNA in Arabidopsis. Plant J. 43 (2005) 530-540
93. Hosoda N., Kim Y.K., Lejeune F., and Maquat L.E. CBP80 promotes interaction of Upf1 with Upf2 during nonsense-mediated mRNA decay in mammalian cells. Nat. Struct. Mol. Biol. 12 (2005) 893-901
94. Howard M., Frizzell R.A., and Bedwell D.M. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat. Med. 2 (1996) 467-469
95. Howard M.T., Anderson C.B., Fass U., Khatri S., Gesteland R.F., Atkins J.F., and Flanigan K.M. Readthrough of dystrophin stop codon mutations induced by aminoglycosides. Ann. Neurol. 55 (2004) 422-426
96. Inacio A., Silva A.L., Pinto J., Ji X., Morgado A., Almeida F., Faustino P., Lavinha J., Liebhaber S.A., and Romao L. Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay. J. Biol. Chem. 279 (2004) 32170-32180
97. Ingelfinger D., Arndt-Jovin D.J., Luhrmann R., and Achsel T. The human LSm1-7 proteins colocalize with the mRNA-degrading enzymes Dcp1/2 and Xrnl in distinct cytoplasmic foci. RNA 8 (2002) 1489-1501
98. Inoue K., Khajavi M., Ohyama T., Hirabayashi S.I., Wilson J., Reggin J.D., Mancias P., Butler I.J., Wilkinson M.F., Wegner M., and Lupski J.R. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat. Genet 36 4 (2004) 361-369
99. Ishigaki Y., Li X., Serin G., and Maquat L.E. 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 (2001) 607-617
100. Kadlec J., Izaurralde E., and Cusack S. The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3. Nat. Struct. Mol. Biol. 11 (2004) 330-337
101. Kadlec J., Guilligay D., Ravelli R.B., and Cusack S. Crystal structure of the UPF2-interacting domain of nonsense-mediated mRNA decay factor UPF1. RNA 12 (2006) 1817-1824
102. Kashima I., Yamashita A., Izumi N., Kataoka N., Morishita R., Hoshino S., Ohno M., Dreyfuss G., and Ohno S. Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay. Genes Dev. 20 (2006) 355-367
103. Kataoka N., and Dreyfuss G. A simple whole cell lysate system for in vitro splicing reveals a stepwise assembly of the exon-exon junction complex. J. Biol. Chem. 279 (2004) 7009-7013
104. Kataoka N., Yong J., Kim V.N., Velazquez F., Perkinson R.A., Wang F., and Dreyfuss G. Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA-binding protein that persists in the cytoplasm. Mol. Cell 6 (2000) 673-682
105. Kaygun H., and Marzluff W.F. Regulated degradation of replication-dependent histone mRNAs requires both ATR and Upf1. Nat. Struct. Mol. Biol. 12 (2005) 794-800
106. Kaygun H., and Marzluff W.F. Translation termination is involved in histone mRNA degradation when DNA replication is inhibited. Mol. Cell Biol. 25 (2005) 6879-6888
107. Kerr T.P., Sewry C.A., Robb S.A., and Roberts R.G. Long mutant dystrophins and variable phenotypes: Evasion of nonsense-mediated decay. Hum. Genet. 109 (2001) 402-407
108. Kertesz S., Kerenyi Z., Merai Z., Bartos I., Palfy T., Barta E., and Silhavy D. Both introns and long 3′-UTRs operate as cis-acting elements to trigger nonsense-mediated decay in plants. Nucleic Acids Res. 34 (2006) 6147-6157
109. Khajavi M., Inoue K., and Lupski J.R. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur. J. Hum. Genet. 14 (2006) 1074-1081
110. Kim V.N., Kataoka N., and Dreyfuss G. Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex. Science 293 (2001) 1832-1836
111. Kim Y.K., Furic L., Desgroseillers L., and Maquat L.E. Mammalian Staufen1 recruits Upf1 to specific mRNA 3′UTRs so as to elicit mRNA decay. Cell 120 (2005) 195-208
112. Kunz J.B., Neu-Yilik G., Hentze M.W., Kulozik A.E., and Gehring N.H. Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation. RNA 12 (2006) 1015-1022
113. Kuperwasser N., Brogna S., Dower K., and Rosbash M. Nonsense-mediated decay does not occur within the yeast nucleus. RNA 10 (2004) 1907-1915
114. Lai C.H., Chun H.H., Nahas S.A., Mitui M., Gamo K.M., Du L., and Gatti R.A. Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc. Natl. Acad. Sci. USA 101 (2004) 15676-15681
115. Le Hir H., Moore M.J., and Maquat L.E. Pre-mRNA splicing alters mRNP composition: Evidence for stable association of proteins at exon-exon junctions. Genes Dev. 14 (2000) 1098-1108
116. Le Hir H., Izaurralde E., Maquat L.E., and Moore M.J. The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions. EMBO J. 19 (2000) 6860-6869
117. Le Hir H., Gatfield D., Izaurralde E., and Moore M.J. The exon-exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay. EMBO J. 20 (2001) 4987-4997
118. Le Hir H., Nott A., and Moore M.J. How introns influence and enhance eukaryotic gene expression. Trends Biochem. Sci. 28 (2003) 215-220
119. Leeds P., Wood J.M., Lee B.S., and Culbertson M.R. Gene products that promote mRNA turnover in Saccharomyces cerevisiae. Mol. Cell Biol. 12 (1992) 2165-2177
120. Lejeune F., and Maquat L.E. Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells. Curr. Opin. Cell Biol. 17 (2005) 309-315
121. Lejeune F., Ishigaki Y., Li X., and Maquat L.E. The exon junction complex is detected on CBP80-bound but not eIF4E-bound mRNA in mammalian cells: Dynamics of mRNP remodeling. EMBO J. 21 (2002) 3536-3545
122. Lejeune F., Li X., and Maquat L.E. Nonsense-mediated mRNA decay in mammalian cells involves decapping, deadenylating, and exonucleolytic activities. Mol. Cell 12 (2003) 675-687
123. Lejeune F., Ranganathan A.C., and Maquat L.E. eIF4G is required for the pioneer round of translation in mammalian cells. Nat. Struct. Mol. Biol. 11 (2004) 992-1000
124. Lelivelt M.J., and Culbertson M.R. Yeast Upf proteins required for RNA surveillance affect global expression of the yeast transcriptome. Mol. Cell Biol. 19 (1999) 6710-6719
125. Lew J.E., Enomoto S., and Berman J. Telomere length regulation and telomeric chromatin require the nonsense-mediated mRNA decay pathway. Mol. Cell Biol. 18 (1998) 6121-6130
126. Lewis B.P., Green R.E., and Brenner S.E. Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans. Proc. Natl. Acad. Sci. USA 100 (2003) 189-192
127. Li S., and Wilkinson M.F. Nonsense surveillance in lymphocytes. Immunity 8 (1998) 135-141
128. Linde L., Boelz S., Nissim-Rafina M., Wilschanski M., Yaacov Y., Virgilis D., Neu-Yilik G., Kulozik A.E., Kerem E., and Kerem B. Nonsense-mediated mRNA decay regulates readthrough of premature termination codons in response to aminoglycoside treatment. J. Clin. Invest. 117 3 (2007) 683-692
129. Lykke-Andersen J. Identification of a human decapping complex associated with hUpf proteins in nonsense-mediated decay. Mol. Cell Biol. 22 (2002) 8114-8121
130. Lykke-Andersen J., Shu M.D., and Steitz J.A. Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon. Cell 103 (2000) 1121-1131
131. Lykke-Andersen J., Shu M.D., and Steitz J.A. Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1. Science 293 (2001) 1836-1839
132. Mackintosh S.G., and Raney K.D. DNA unwinding and protein displacement by superfamily 1 and superfamily 2 helicases. Nucleic Acids Res. 34 (2006) 4154-4159
133. Maderazo A.B., He F., Mangus D.A., and Jacobson A. Upf1p control of nonsense mRNA translation is regulated by Nmd2p and Upf3p. Mol. Cell Biol. 20 (2000) 4591-4603
134. Maderazo A.B., Belk J.P., He F., and Jacobson A. Nonsense-containing mRNAs that accumulate in the absence of a functional nonsense-mediated mRNA decay pathway are destabilized rapidly upon its restitution. Mol. Cell Biol. 23 (2003) 842-851
135. Mango S.E. Stop making nonSense: The C. elegans smg genes. Trends Genet. 17 (2001) 646-653
136. Mann C.J., Honeyman K., Cheng A.J., Ly T., Lloyd F., Fletcher S., Morgan J.E., Partridge T.A., and Wilton S.D. Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc. Natl. Acad. Sci. USA 98 (2001) 42-47
137. Maquat L.E. Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics. Nat. Rev. Mol. Cell Biol. 5 (2004) 89-99
138. Maquat L.E., and Li X. Mammalian heat shock p70 and histone H4 transcripts, which derive from naturally intronless genes, are immune to nonsense-mediated decay. RNA 7 (2001) 445-456
139. Matsumoto K., Wassarman K.M., and Wolffe A.P. Nuclear history of a pre-mRNA determines the translational activity of cytoplasmic mRNA. EMBO J. 17 (1998) 2107-2121
140. McClorey G., Fall A.M., Moulton H.M., Iversen P.L., Rasko J.E., Ryan M., Fletcher S., and Wilton S.D. Induced dystrophin exon skipping in human muscle explants. Neuromuscul. Disord. 16 (2006) 583-590
141. Medghalchi S.M., Frischmeyer P.A., Mendell J.T., Kelly A.G., Lawler A.M., and Dietz H.C. Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability. Hum. Mol. Genet. 10 (2001) 99-105
142. Mendell J.T., Medghalchi S.M., Lake R.G., Noensie E.N., and Dietz H.C. Novel Upf2p orthologues suggest a functional link between translation initiation and nonsense surveillance complexes. Mol. Cell Biol. 20 (2000) 8944-8957
143. Mendell J.T., ap Rhys C.M., and Dietz H.C. Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts. Science 298 (2002) 419-422
144. Mendell J.T., Sharifi N.A., Meyers J.L., Martinez-Murillo F., and Dietz H.C. Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Nat. Genet. 36 (2004) 1073-1078
145. Merz C., Urlaub H., Will C.L., and Luhrmann R. Protein composition of human mRNPs spliced in vitro and differential requirements for mRNP protein recruitment. RNA 13 (2007) 116-128
146. Mitchell P., and Tollervey D. An NMD pathway in yeast involving accelerated deadenylation and exosome-mediated 3′→5′ degradation. Mol. Cell 11 (2003) 1405-1413
147. Moriarty P.M., Reddy C.C., and Maquat L.E. 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 (1998) 2932-2939
148. Muhlrad D., and Parker R. Aberrant mRNAs with extended 3′ UTRs are substrates for rapid degradation by mRNA surveillance. RNA 5 (1999) 1299-1307
149. Muhlrad D., Decker C.J., and Parker R. Deadenylation of the unstable mRNA encoded by the yeast MFA2 gene leads to decapping followed by 5′→3′digestion of the transcript. Genes Dev. 8 (1994) 855-866
150. Nagy E., and Maquat L.E. A rule for termination-codon position within intron-containing genes: When nonsense affects RNA abundance. Trends Biochem. Sci. 23 (1998) 198-199
151. Neu-Yilik G., and Kulozik A.K. mRNA metabolism and hereditary disorders: A tale of surveillance and escape. Klin. Päd. 216 (2004) 304-314
152. Neu-Yilik G., Gehring N.H., Thermann R., Frede U., Hentze M.W., and Kulozik A.E. Splicing and 3′ end formation in the definition of nonsense-mediated decay-competent human beta-globin mRNPs. EMBO J. 20 (2001) 532-540
153. Nott A., Meislin S.H., and Moore M.J. A quantitative analysis of intron effects on mammalian gene expression. RNA 9 (2003) 607-617
154. Nott A., Le Hir H., and Moore M.J. Splicing enhances translation in mammalian cells: An additional function of the exon junction complex. Genes Dev. 18 (2004) 210-222
155. Ohnishi T., Yamashita A., Kashima I., Schell T., Anders K.R., Grimson A., Hachiya T., Hentze M.W., Anderson P., and Ohno S. Phosphorylation of hUPF1 induces formation of mRNA surveillance complexes containing hSMG-5 and hSMG-7. Mol. Cell 12 (2003) 1187-1200
156. Oliveira C.C., van den Heuvel J.J., and McCarthy J.E. Inhibition of translational initiation in Saccharomyces cerevisiae by secondary structure: The roles of the stability and position of stem-loops in the mRNA leader. Mol. Microbiol. 9 (1993) 521-532
157. O'Sullivan J.M., Tan-Wong S.M., Morillon A., Lee B., Coles J., Mellor J., and Proudfoot N.J. Gene loops juxtapose promoters and terminators in yeast. Nat. Genet. 36 (2004) 1014-1018
158. Page M.F., Carr B., Anders K.R., Grimson A., and Anderson P. SMG-2 is a phosphorylated protein required for mRNA surveillance in Caenorhabditis elegans and related to Upf1p of yeast. Mol. Cell Biol. 19 (1999) 5943-5951
159. Pal M., Ishigaki Y., Nagy E., and Maquat L.E. 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 7 (2001) 5-15
160. Paulsen M., Lund C., Akram Z., Winther J.R., Horn N., and Moller L.B. Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites. Am. J. Hum. Genet. 79 (2006) 214-229
161. Perrin-Vidoz L., Sinilnikova O.M., Stoppa-Lyonnet D., Lenoir G.M., and Mazoyer S. The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum. Mol. Genet. 11 (2002) 2805-2814
162. Pinto I., Na J.G., Sherman F., and Hampsey M. cis- and trans-acting suppressors of a translation initiation defect at the cyc1 locus of Saccharomyces cerevisiae. Genetics 132 (1992) 97-112
163. Politano L., Nigro G., Nigro V., Piluso G., Papparella S., Paciello O., and Comi L.I. Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results. Acta Myol. 22 (2003) 15-21
164. Pulak R., and Anderson P. mRNA surveillance by the Caenorhabditis elegans smg genes. Genes Dev. 7 (1993) 1885-1897
165. Reddy J.C., Morris J.C., Wang J., English M.A., Haber D.A., Shi Y., and Licht J.D. WT1-mediated transcriptional activation is inhibited by dominant negative mutant proteins. J. Biol. Chem. 270 (1995) 10878-10884
166. Rehwinkel J., Letunic I., Raes J., Bork P., and Izaurralde E. Nonsense-mediated mRNA decay factors act in concert to regulate common mRNA targets. RNA 11 (2005) 1530-1544
167. Rehwinkel J., Raes J., and Izaurralde E. Nonsense-mediated mRNA decay: Target genes and functional diversification of effectors. Trends Biochem. Sci. 31 (2006) 639-646
168. Reichenbach P., Hoss M., Azzalin C.M., Nabholz M., Bucher P., and Lingner J. A human homolog of yeast Est1 associates with telomerase and uncaps chromosome ends when overexpressed. Curr. Biol. 13 (2003) 568-574
169. Resta N., Susca F.C., Di Giacomo M.C., Stella A., Bukvic N., Bagnulo R., Simone C., and Guanti G. A homozygous frameshift mutation in the ESCO2 gene: Evidence of intertissue and interindividual variation in Nmd efficiency. J. Cell Physiol. 209 (2006) 67-73
170. Rodriguez-Gabriel M.A., Watt S., Bahler J., and Russell P. Upf1, an RNA helicase required for nonsense-mediated mRNA decay, modulates the transcriptional response to oxidative stress in fission yeast. Mol. Cell Biol. 26 (2006) 6347-6356
171. Romao L., Inacio A., Santos S., Avila M., Faustino P., Pacheco P., and Lavinha J. Nonsense mutations in the human beta-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation. Blood 96 (2000) 2895-2901
172. Ruiz-Echevarria M.J., and Peltz S.W. Utilizing the GCN4 leader region to investigate the role of the sequence determinants in nonsense-mediated mRNA decay. EMBO J. 15 (1996) 2810-2819
173. Ruiz-Echevarria M.J., and Peltz S.W. The RNA binding protein Pub1 modulates the stability of transcripts containing upstream open reading frames. Cell 101 (2000) 741-751
174. Ruiz-Echevarria M.J., Gonzalez C.I., and Peltz S.W. Identifying the right stop: Determining how the surveillance complex recognizes and degrades an aberrant mRNA. EMBO J. 17 (1998) 575-589
175. Schell T., Kocher T., Wilm M., Seraphin B., Kulozik A.E., and Hentze M.W. Complexes between the nonsense-mediated decay (NMD) pathway factor Hupf1 and essential NMD factors in HeLa cells. Biochem. J. 373 Pt 3 (2003) 775-783
176. Schwerk C., and Schulze-Osthoff K. Regulation of apoptosis by alternative pre-mRNA splicing. Mol. Cell 19 (2005) 1-13
177. Serin G., Gersappe A., Black J.D., Aronoff R., and Maquat L.E. Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4). Mol. Cell Biol. 21 (2001) 209-223
178. Sheth U., and Parker R. Decapping and decay of messenger RNA occur in cytoplasmic processing bodies. Science 300 (2003) 805-808
179. Sheth U., and Parker R. Targeting of aberrant mRNAs to cytoplasmic processing bodies. Cell 125 (2006) 1095-1109
180. Shin C., and Manley J.L. Cell signalling and the control of pre-mRNA splicing. Nat. Rev. Mol. Cell Biol. 5 (2004) 727-738
181. Silva A.L., Pereira F.J., Morgado A., Kong J., Martins R., Faustino P., Liebhaber S.A., and Romao L. The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context. RNA 12 (2006) 2160-2170
182. Sleat D.E., Sohar I., Gin R.M., and Lobel P. Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis. Eur. J. Paediatr. Neurol. 5 Suppl A (2001) 57-62
183. Snow B.E., Erdmann N., Cruickshank J., Goldman H., Gill R.M., Robinson M.O., and Harrington L. Functional conservation of the telomerase protein est1p in humans. Curr. Biol. 13 (2003) 698-704
184. Srebrow A., and Kornblihtt A.R. The connection between splicing and cancer. J. Cell Sci. 119 (2006) 2635-2641
185. Stevens A., Wang Y., Bremer K., Zhang J., Hoepfner R., Antoniou M., Schoenberg D.R., and Maquat L.E. Beta-Globin mRNA decay in erythroid cells: UG site-preferred endonucleolytic cleavage that is augmented by a premature termination codon. Proc. Natl. Acad. Sci. USA 99 (2002) 12741-12746
186. Stockklausner C., Breit S., Neu-Yilik G., Echner N., Hentze M.W., Kulozik A.E., and Gehring N.H. The uORF-containing thrombopoietin mRNA escapes nonsense-mediated decay (NMD). Nucleic Acids Res. 34 (2006) 2355-2363
187. Sun X., Perlick H.A., Dietz H.C., and Maquat L.E. 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 (1998) 10009-10014
188. Sun X., Moriarty P.M., and Maquat L.E. Nonsense-mediated decay of glutathione peroxidase 1 mRNA in the cytoplasm depends on intron position. EMBO J. 19 (2000) 4734-4744
189. Sun X., Li X., Moriarty P.M., Henics T., LaDuca J.P., and Maquat L.E. Nonsense-mediated decay of mRNA for the selenoprotein phospholipid hydroperoxide glutathione peroxidase is detectable in cultured cells but masked or inhibited in rat tissues. Mol. Biol. Cell 12 (2001) 1009-1017
190. Sureau A., Gattoni R., Dooghe Y., Stevenin J., and Soret J. SC35 autoregulates its expression by promoting splicing events that destabilize its mRNAs. EMBO J. 20 (2001) 1785-1796
191. Sylvain V., Lafarge S., and Bignon Y.J. Dominant-negative activity of a Brca1 truncation mutant: Effects on proliferation, tumorigenicity in vivo, and chemosensitivity in a mouse ovarian cancer cell line. Int. J. Oncol. 20 (2002) 845-853
192. Tange T.O., Nott A., and Moore M.J. The ever-increasing complexities of the exon junction complex. Curr. Opin. Cell Biol. 16 (2004) 279-284
193. Tange T.O., Shibuya T., Jurica M.S., and Moore M.J. Biochemical analysis of the EJC reveals two new factors and a stable tetrameric protein core. RNA 11 (2005) 1869-1883
194. Taylor R., Kebaara B.W., Nazarenus T., Jones A., Yamanaka R., Uhrenholdt R., Wendler J.P., and Atkin A.L. Gene set coregulated by the Saccharomyces cerevisiae nonsense-mediated mRNA decay pathway. Eukaryot Cell 4 (2005) 2066-2077
195. Thein S.L., Hesketh C., Taylor P., Temperley I.J., Hutchinson R.M., Old J.M., Wood W.G., Clegg J.B., and Weatherall D.J. Molecular basis for dominantly inherited inclusion body beta-thalassemia. Proc. Natl. Acad. Sci. USA 87 (1990) 3924-3928
196. Thermann R., Neu-Yilik G., Deters A., Frede U., Wehr K., Hagemeier C., Hentze M.W., and Kulozik A.E. Binary specification of nonsense codons by splicing and cytoplasmic translation. EMBO J. 17 (1998) 3484-3494
197. Unterholzner L., and Izaurralde E. SMG7 acts as a molecular link between mRNA surveillance and mRNA decay. Mol. Cell 16 (2004) 587-596
198. Wagner K.R., Hamed S., Hadley D.W., Gropman A.L., Burstein A.H., Escolar D.M., Hoffman E.P., and Fischbeck K.H. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations [comment]. Ann. Neurol. 49 (2001) 706-711
199. Wang J., Gudikote J.P., Olivas O.R., and Wilkinson M.F. Boundary-independent polar nonsense-mediated decay. EMBO Rep. 3 (2002) 274-279
200. Wang J., Vock V.M., Li S., Olivas O.R., and Wilkinson M.F. A quality control pathway that down-regulates aberrant T-cell receptor (TCR) transcripts by a mechanism requiring UPF2 and translation. J. Biol. Chem. 277 (2002) 18489-18493
201. Wang W., Czaplinski K., Rao Y., and Peltz S.W. The role of Upf proteins in modulating the translation read-through of nonsense-containing transcripts. EMBO J. 20 (2001) 880-890
202. Ware M.D., DeSilva D., Sinilnikova O.M., Stoppa-Lyonnet D., Tavtigian S.V., and Mazoyer S. Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene. Oncogene 25 (2006) 323-328
203. Weil J.E., and Beemon K.L. A 3′ UTR sequence stabilizes termination codons in the unspliced RNA of Rous sarcoma virus. RNA 12 (2006) 102-110
204. Weischenfeldt J., Lykke-Andersen J., and Porse B. Messenger RNA surveillance: Neutralizing natural nonsense. Curr. Biol. 15 (2005) R559-R562
205. Wells S.E., Hillner P.E., Vale R.D., and Sachs A.B. Circularization of mRNA by eukaryotic translation initiation factors. Mol. Cell 2 (1998) 135-140
206. Weng Y., Czaplinski K., and Peltz S.W. Identification and characterization of mutations in the UPF1 gene that affect nonsense suppression and the formation of the Upf protein complex but not mRNA turnover. Mol. Cell Biol. 16 (1996) 5491-5506
207. Weng Y., Czaplinski K., and Peltz S.W. Genetic and biochemical characterization of mutations in the ATPase and helicase regions of the Upf1 protein. Mol. Cell Biol. 16 (1996) 5477-5490
208. Wiegand H.L., Lu S., and Cullen B.R. Exon junction complexes mediate the enhancing effect of splicing on mRNA expression. Proc. Natl. Acad. Sci. USA 100 (2003) 11327-11332
209. Wilkinson M.F. The cycle of nonsense. Mol. Cell 12 (2003) 1059-1061
210. Wilkinson M.F. A new function for nonsense-mediated mRNA-decay factors. Trends Genet. 21 (2005) 143-148
211. Wilschanski M., Yahav Y., Yaacov Y., Blau H., Bentur L., Rivlin J., Aviram M., Bdolah-Abram T., Bebok Z., Shushi L., Kerem B., and Kerem E. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N. Engl. J. Med. 349 (2003) 1433-1441
212. Wilton S.D., and Fletcher S. Redirecting splicing to address dystrophin mutations: Molecular by-pass surgery. Prog. Mol. Subcell Biol. 44 (2006) 161-197
213. Wilton S.D., and Fletcher S. Modification of pre-mRNA processing: Application to dystrophin expression. Curr. Opin. Mol. Ther. 8 (2006) 130-135
214. Wittmann J., Hol E.M., and Jack H.M. hUPF2 silencing identifies physiologic substrates of mammalian nonsense-mediated mRNA decay. Mol. Cell Biol. 26 (2006) 1272-1287
215. Wollerton M.C., Gooding C., Wagner E.J., Garcia-Blanco M.A., and Smith C.W. Autoregulation of polypyrimidine tract binding protein by alternative splicing leading to nonsense-mediated decay. Mol. Cell 13 (2004) 91-100
216. Wolstencroft E.C., Mattis V., Bajer A.A., Young P.J., and Lorson C.L. A non-sequence-specific requirement for SMN protein activity: The role of aminoglycosides in inducing elevated SMN protein levels. Hum. Mol. Genet. 14 (2005) 1199-1210
217. Yamashita A., Ohnishi T., Kashima I., Taya Y., and Ohno S. 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 (2001) 2215-2228
218. Yamashita A., Chang T.C., Yamashita Y., Zhu W., Zhong Z., Chen C.Y., and Shyu A.B. Concerted action of poly(A) nucleases and decapping enzyme in mammalian mRNA turnover. Nat. Struct. Mol. Biol. 12 (2005) 1054-1063
219. Yoine M., Nishii T., and Nakamura K. Arabidopsis UPF1 RNA helicase for nonsense-mediated mRNA decay is involved in seed size control and is essential for growth. Plant Cell Physiol. 47 (2006) 572-580
220. Zhang Z., and Krainer A.R. Nonsense-associated altered splicing. In: Maquat L.E. (Ed). Nonsense-Mediated mRNA Deacy (2006), Landes Bioscience, Georgetown, Texas 263-271
221. Zsembery A., Jessner W., Sitter G., Spirli C., Strazzabosco M., and Graf J. Correction of CFTR malfunction and stimulation of Ca-activated Cl channels restore HCO3- secretion in cystic fibrosis bile ductular cells. Hepatology 35 (2002) 95-104