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Volumn 24, Issue 6, 2004, Pages 526-533

Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia

Author keywords

DBA; Diamond Blackfan anemia; NMD; Nonstop decay; RPS19, Nonsense mediated decay

Indexed keywords

MESSENGER RNA; PROTEIN S19; RIBOSOME PROTEIN; UNCLASSIFIED DRUG;

EID: 10844220712     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20117     Document Type: Article
Times cited : (39)

References (40)
  • 1
    • 0036981759 scopus 로고    scopus 로고
    • Nerve growth factor selectively regulates expression of transcripts encoding ribosomal proteins
    • Angelastro JM, Torocsik B, Greene LA. 2002. Nerve growth factor selectively regulates expression of transcripts encoding ribosomal proteins. BMC Neurosci 3:3.
    • (2002) BMC Neurosci , vol.3 , pp. 3
    • Angelastro, J.M.1    Torocsik, B.2    Greene, L.A.3
  • 2
    • 0028242719 scopus 로고
    • Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms
    • Aoyama T, Francke U, Dietz HC, Furthmayr H. 1994. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms. J Clin Invest 94:130-137.
    • (1994) J Clin Invest , vol.94 , pp. 130-137
    • Aoyama, T.1    Francke, U.2    Dietz, H.C.3    Furthmayr, H.4
  • 3
    • 0035895061 scopus 로고    scopus 로고
    • Congenital afibrinogenemia: Mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs
    • Asselta R, Duga S, Spena S, Santagostino E, Peyvandi F, Piseddu G, Targhetta R, Malcovati M, Mannucci PM, Tenchini ML. 2001. 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 98:3685-3692.
    • (2001) Blood , vol.98 , pp. 3685-3692
    • Asselta, R.1    Duga, S.2    Spena, S.3    Santagostino, E.4    Peyvandi, F.5    Piseddu, G.6    Targhetta, R.7    Malcovati, M.8    Mannucci, P.M.9    Tenchini, M.L.10
  • 4
    • 0029737830 scopus 로고    scopus 로고
    • Diamond-Blackfan anaemia in the U.K.: Analysis of 80 cases from a 20-year birth cohort
    • Ball SE, McGuckin CP Jenkins G, Gordon-Smith EC. 1996. Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort. Br J Haematol 94:645-653.
    • (1996) Br J Haematol , vol.94 , pp. 645-653
    • Ball, S.E.1    McGuckin, C.P.2    Jenkins, G.3    Gordon-Smith, E.C.4
  • 5
    • 0026506370 scopus 로고
    • Beta-globin nonsense mutation: Deficient accumulation of mRNA occurs despite normal cytoplasmic stability
    • Baserga SJ, Benz EJ Jr. 1992. Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability. Proc Natl Acad Sci USA 89:2935-2939.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 2935-2939
    • Baserga, S.J.1    Benz Jr., E.J.2
  • 7
    • 0036142862 scopus 로고    scopus 로고
    • Killing the messenger: New insights into nonsense-mediated mRNA decay
    • Byers PH. 2002. Killing the messenger: new insights into nonsense-mediated mRNA decay. J Clin Invest 109:3-6.
    • (2002) J Clin Invest , vol.109 , pp. 3-6
    • Byers, P.H.1
  • 8
    • 0018764020 scopus 로고
    • beta O thalassemia, a nonsense mutation in man
    • Chang JC, Kan YW. 1979. beta O thalassemia, a nonsense mutation in man. Proc Natl Acad Sci USA 76:2886-2889.
    • (1979) Proc Natl Acad Sci USA , vol.76 , pp. 2886-2889
    • Chang, J.C.1    Kan, Y.W.2
  • 10
    • 0038383284 scopus 로고    scopus 로고
    • Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: Potential insights into pathophysiology
    • Da Costa L, Tchernia G, Gascard P, Lo A, Meerpohl J, Niemeyer C, Chasis JA, Fixler J, Mohandas N. 2003b. Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology. Blood 101:5039-5045.
    • (2003) Blood , vol.101 , pp. 5039-5045
    • Da Costa, L.1    Tchernia, G.2    Gascard, P.3    Lo, A.4    Meerpohl, J.5    Niemeyer, C.6    Chasis, J.A.7    Fixler, J.8    Mohandas, N.9
  • 11
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 12
    • 0027261517 scopus 로고
    • Four novel FBN1 mutations: Significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
    • Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA. 1993. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics 17:468-475.
    • (1993) Genomics , vol.17 , pp. 468-475
    • Dietz, H.C.1    McIntosh, I.2    Sakai, L.Y.3    Corson, G.M.4    Chalberg, S.C.5    Pyeritz, R.E.6    Francomano, C.A.7
  • 14
    • 0020480134 scopus 로고
    • Coordinate regulation of ribosomal protein mRNA level in regenerating rat liver. Study with the corresponding mouse cloned cDNAs
    • Faliks D, Meyuhas O. 1982. Coordinate regulation of ribosomal protein mRNA level in regenerating rat liver. Study with the corresponding mouse cloned cDNAs. Nucleic Acids Res 10:789-801.
    • (1982) Nucleic Acids Res , vol.10 , pp. 789-801
    • Faliks, D.1    Meyuhas, O.2
  • 15
    • 0032837376 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay in health and disease
    • Frischmeyer PA, Dietz HC. 1999. Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 8:1893-1900.
    • (1999) Hum Mol Genet , vol.8 , pp. 1893-1900
    • Frischmeyer, P.A.1    Dietz, H.C.2
  • 18
    • 0028344092 scopus 로고
    • 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
    • Hall GW, Thein S. 1994. 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: 2031-2037.
    • (1994) Blood , vol.83 , pp. 2031-2037
    • Hall, G.W.1    Thein, S.2
  • 19
    • 0024850413 scopus 로고
    • Diamond-Blackfan anemia: Etiology, pathophysiology, and treatment
    • Halperin DS, Freedman MH. 1989. Diamond-Blackfan anemia: etiology, pathophysiology, and treatment. Am J Pediatr Hematol Oncol 11:380-394.
    • (1989) Am J Pediatr Hematol Oncol , vol.11 , pp. 380-394
    • Halperin, D.S.1    Freedman, M.H.2
  • 20
    • 0037108191 scopus 로고    scopus 로고
    • Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia
    • Hamaguchi I, Ooka A, Brun A, Richter J, Dahl N, Karlsson S. 2002. Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia. Blood 100:2724-2731.
    • (2002) Blood , vol.100 , pp. 2724-2731
    • Hamaguchi, I.1    Ooka, A.2    Brun, A.3    Richter, J.4    Dahl, N.5    Karlsson, S.6
  • 21
    • 0035823036 scopus 로고    scopus 로고
    • Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20
    • Ishigaki Y, Li X, Serin G, Maquat LE. 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.
    • (2001) Cell , vol.106 , pp. 607-617
    • Ishigaki, Y.1    Li, X.2    Serin, G.3    Maquat, L.E.4
  • 22
    • 0035823150 scopus 로고    scopus 로고
    • Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex
    • Kim VN, Kataoka N, Dreyfuss G. 2001. Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex. Science 293:1832-1836.
    • (2001) Science , vol.293 , pp. 1832-1836
    • Kim, V.N.1    Kataoka, N.2    Dreyfuss, G.3
  • 23
    • 0033061571 scopus 로고    scopus 로고
    • Initiation of translation in prokaryotes and eukaryotes
    • Kozak M. 1999. Initiation of translation in prokaryotes and eukaryotes. Gene 234:187-208.
    • (1999) Gene , vol.234 , pp. 187-208
    • Kozak, M.1
  • 24
    • 0034672093 scopus 로고    scopus 로고
    • The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions
    • Le Hir H, Izaurralde E, Maquat LE, Moore MJ. 2000. The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions. EMBO J 19:6860-6869.
    • (2000) EMBO J , vol.19 , pp. 6860-6869
    • Le Hir, H.1    Izaurralde, E.2    Maquat, L.E.3    Moore, M.J.4
  • 25
    • 0009461277 scopus 로고
    • Interference of nonsense mutations with eukaryotic messenger RNA stability
    • Losson R, Lacroute F. 1979. Interference of nonsense mutations with eukaryotic messenger RNA stability. Proc Natl Acad Sci USA 76:5134-5137.
    • (1979) Proc Natl Acad Sci USA , vol.76 , pp. 5134-5137
    • Losson, R.1    Lacroute, F.2
  • 26
    • 0035028094 scopus 로고    scopus 로고
    • Mammalian heat shock p70 and histone H4 transcripts, which derive from naturally intronless genes, are immune to nonsense-mediated decay
    • Maquat LE, 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.
    • (2001) RNA , vol.7 , pp. 445-456
    • Maquat, L.E.1    Li, X.2
  • 27
    • 0035900647 scopus 로고    scopus 로고
    • When the message goes awry: Disease-producing mutations that influence mRNA content and performance
    • Mendell JT, Dietz HC. 2001. When the message goes awry: disease-producing mutations that influence mRNA content and performance. Cell 107:411-414.
    • (2001) Cell , vol.107 , pp. 411-414
    • Mendell, J.T.1    Dietz, H.C.2
  • 28
    • 0032104190 scopus 로고    scopus 로고
    • A rule for termination-codon position within intron-containing genes: When nonsense affects RNA abundance
    • Nagy E, Maquat LE. 1998. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 23:198-199.
    • (1998) Trends Biochem Sci , vol.23 , pp. 198-199
    • Nagy, E.1    Maquat, L.E.2
  • 29
    • 0036848138 scopus 로고    scopus 로고
    • The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons
    • Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM, Mazoyer S. 2002. The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum Mol Genet 11: 2805-2814.
    • (2002) Hum Mol Genet , vol.11 , pp. 2805-2814
    • Perrin-Vidoz, L.1    Sinilnikova, O.M.2    Stoppa-Lyonnet, D.3    Lenoir, G.M.4    Mazoyer, S.5
  • 30
    • 0034928832 scopus 로고    scopus 로고
    • Nonsense-mediated decay of human HEXA mRNA
    • Rajavel KS, Neufeld EF. 2001. Nonsense-mediated decay of human HEXA mRNA. Mol Cell Biol 21:5512-5519.
    • (2001) Mol Cell Biol , vol.21 , pp. 5512-5519
    • Rajavel, K.S.1    Neufeld, E.F.2
  • 31
    • 0033036048 scopus 로고    scopus 로고
    • Mutant transcripts of the LDL receptor gene: mRNA structure and quantity
    • Rodningen OK, Tonstad S, Saugstad OD, Ose L, Leren TP. 1999. Mutant transcripts of the LDL receptor gene: mRNA structure and quantity. Hum Mutat 13:186-196.
    • (1999) Hum Mutat , vol.13 , pp. 186-196
    • Rodningen, O.K.1    Tonstad, S.2    Saugstad, O.D.3    Ose, L.4    Leren, T.P.5
  • 33
    • 0036204810 scopus 로고    scopus 로고
    • Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway
    • REVIEWS1006
    • Schell T, Kulozik AE, Hentze MW. 2002. Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway. Genome Biol 3:REVIEWS1006.
    • (2002) Genome Biol , vol.3
    • Schell, T.1    Kulozik, A.E.2    Hentze, M.W.3
  • 34
    • 0036071270 scopus 로고    scopus 로고
    • Premature termination mutations in FBN1: Distinct effects on differential allelic expression and on protein and clinical phenotypes
    • Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U. 2002. Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. Am J Hum Genet 71:223-237.
    • (2002) Am J Hum Genet , vol.71 , pp. 223-237
    • Schrijver, I.1    Liu, W.2    Odom, R.3    Brenn, T.4    Oefner, P.5    Furthmayr, H.6    Francke, U.7
  • 35
    • 0037155584 scopus 로고    scopus 로고
    • Exosome-mediated recognition and degradation of mRNAs lacking a termination codon
    • van Hoof A, Frischmeyer PA, Dietz HC, Parker R. 2002. Exosome-mediated recognition and degradation of mRNAs lacking a termination codon. Science 295:2262-2264.
    • (2002) Science , vol.295 , pp. 2262-2264
    • Van Hoof, A.1    Frischmeyer, P.A.2    Dietz, H.C.3    Parker, R.4
  • 36
    • 0036715205 scopus 로고    scopus 로고
    • Non-stop decay - A new mRNA surveillance pathway
    • Vasudevan S, Peltz SW, Wilusz CJ. 2002. Non-stop decay - a new mRNA surveillance pathway. Bioessays 24:785-788.
    • (2002) Bioessays , vol.24 , pp. 785-788
    • Vasudevan, S.1    Peltz, S.W.2    Wilusz, C.J.3
  • 38
    • 0036677083 scopus 로고    scopus 로고
    • mRNA surveillance: The perfect persist
    • Wagner E, Lykke-Andersen J. 2002. mRNA surveillance: the perfect persist. J Cell Sci 115(Pt 15):3033-3038.
    • (2002) J Cell Sci , vol.115 , Issue.PART 15 , pp. 3033-3038
    • Wagner, E.1    Lykke-Andersen, J.2
  • 40
    • 0031046735 scopus 로고    scopus 로고
    • Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells
    • Zhang J, Maquat LE. 1997. Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells. EMBO J 16:826-833.
    • (1997) EMBO J , vol.16 , pp. 826-833
    • Zhang, J.1    Maquat, L.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.