Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients

Blood Cells, Molecules, and Diseases

Volumn 36, Issue 1, 2006, Pages 46-52

  Montfort, Magda ^a   Chabás, Amparo ^b   Vilageliu, Lluïsa ^a   Grinberg, Daniel ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

Author keywords

Gaucher disease; Nonsense mediated decay (NMD); Protein truncation test (PTT)

Indexed keywords

BETA GLUCOSIDASE; COMPLEMENTARY DNA; MESSENGER RNA;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DNA DETERMINATION; FIBROBLAST; FRAMESHIFT MUTATION; GAUCHER DISEASE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS;

ADOLESCENT; ADULT; ALLELES; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; CYCLOHEXIMIDE; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MALE; POINT MUTATION; PROTEIN SYNTHESIS INHIBITORS; RNA STABILITY; SPAIN;

EID: 30344433473     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2005.10.002     Document Type: Article

References (28)

1. E. Beutler, T. Gelbart, and C.R. Scott Hematologically important mutations: Gaucher disease Blood Cells Mol. Dis. 35 2005 355 364
2. B. Theophilus, T. Latham, G.A. Grabowski, and F.I. Smith Gaucher disease: molecular heterogeneity and phenotype-genotype correlations Am. J. Hum. Genet. 45 1989 212 225
3. E. Beutler, T. Gelbart, W. Kuhl, A. Zimran, and C. West Mutations in Jewish patients with Gaucher disease Blood 79 1992 1662 1666
4. M. Horowitz, and A. Zimran Mutations causing Gaucher disease Hum. Mutat. 3 1994 1 11
5. M. Montfort, A. Chabas, L. Vilageliu, and D. Grinberg Functional analysis of 13 mutant alleles identified in Gaucher disease patients: pathogenic changes and "modifier" polymorphisms (Erratum) Hum. Mutat. 26 2005 276
6. L.E. Maquat Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics Nat. Rev., Mol. Cell Biol. 5 2004 89 99
7. J.T. Mendell, N.A. Sharifi, J.L. Meyers, F. Martinez-Murillo, and H.C. Dietz Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise Nat. Genet. 36 2004 1073 1078
8. J. Cheng, P. Belgrader, X. Zhou, and L.E. Maquat Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance Mol. Cell. Biol. 14 1994 6317 6325
9. J. Zhang, X.L. Sun, Y.M. Qian, J.P. Laduca, and L.E. Maquat At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation Mol. Cell. Biol. 18 1998 5272 5283
10. E. Nagy, and L.E. Maquat A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance Trends Biochem. Sci. 23 1998 198 199
11. L.E. Maquat Nonsense-mediated mRNA decay Curr. Biol. 12 2002 R196 R197
12. M.S. Carter, J. Doskow, P. Morris, S. Li, R.P. Nhim, S. Sandstedt, and M.F. Wilkinson A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro J. Biol. Chem. 270 1995 28995 29003
13. P.A. Frischmeyer, and H.C. Dietz Nonsense-mediated mRNA decay in health and disease Hum. Mol. Genet. 8 1999 1893 1900
14. I. Schrijver, W.G. Liu, R. Odom, T. Brenn, P. Oefner, H. Furthmayr, and U. Francke Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes Am. J. Hum. Genet. 71 2002 223 237
15. G. Neu-Yilik, N. Gehring, R. Thermann, U. Frede, M.W. Hentze, and A.E. Kulozik Splicing and 3′ end formation in the definition of nonsense-mediated decay-competent human beta-globin mRNPs EMBO J. 20 2001 532 540
16. D.A. Redford-Badwal, M.L. Stover, M. Valli, M.B. Mckinstry, and D.W. Rowe Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta J. Clin. Invest. 97 1996 1035 1040
17. K.S. Rajavel, and E.F. Neufeld Nonsense-mediated decay of human HEXA mRNA Mol. Cell. Biol. 21 2001 5512 5519
18. L. Perrin-Vidoz, O.M. Sinilnikova, D. Stoppa-Lyonnet, G.M. Lenoir, and S. Mazoyer The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons Hum. Mol. Genet. 11 2002 2805 2814
19. M.R. Culbertson Sense versus nonsense in DNA diagnostics Nat. Biotechnol. 19 2001 413 414
20. B. Cormand, D. Grinberg, L. Gort, A. Chabás, and L. Vilageliu Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome Hum. Mutat. 11 1998 295 305
21. M. Montfort, A. Chabas, L. Vilageliu, and D. Grinberg Functional analysis of 13 mutant alleles identified in Gaucher disease patients: pathogenic changes and "modifier" polymorphisms Hum. Mutat. 23 2004 567 575
22. E. Beutler, T. Gelbart, and C. West The facile detection of the nt 1226 mutation of glucocerebrosidase by "mismatched" PCR Clin. Chim. Acta 194 1990 161 166
23. J.A. Holbrook, G. Neu-Yilik, M.W. Hentze, and A.E. Kulozik Nonsense-mediated decay approaches the clinic Nat. Genet. 36 2004 801 808
24. J.F. Bateman, S. Freddi, G. Nattrass, and R. Savarirayan Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage Hum. Mol. Genet. 12 2003 217 225
25. M. Tzetis, A. Efthymiadou, S. Doudounakis, and E. Kanavakis Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations 621 + 3A - >G, 2751 + 2T - > A, 296 + 1G - > C, 1717-9T - > C-D565G) and one nonsense mutation (ES22X) in the CFTR gene Hum. Genet. 109 2001 592 601
26. J. Denecke, C. Kranz, D. Kemming, H.G. Koch, and T. Marquardt 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
27. M. Kozak Constraints on reinitiation of translation in mammals Nucleic Acids Res. 29 2001 5226 5232
28. J. Zhang, and L.E. Maquat Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells EMBO J. 16 1997 826 833