Nonsense-mediated decay of human LDL receptor mRNA

Scandinavian Journal of Clinical and Laboratory Investigation

Volumn 69, Issue 3, 2009, Pages 409-417

  Holla, Øystein Lunde ^a   Kulseth, Mari Ann ^a   Berge, Knut Erik ^a   Leren, Trond Paul ^a   Ranheim, Trine ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

Aminoglycoside; LDL receptor; mRNA decay; Mutation; Premature termination codon; Protein synthesis inhibitors

Indexed keywords

CYCLOHEXIMIDE; EMETINE; GENTAMICIN; LOW DENSITY LIPOPROTEIN RECEPTOR; MESSENGER RNA; PROTEIN; LOW DENSITY LIPOPROTEIN; PROTEIN SYNTHESIS INHIBITOR;

ARTICLE; CASE REPORT; CELL FUNCTION; CELL SURFACE; CONTROLLED STUDY; EPSTEIN BARR VIRUS; FAMILIAL HYPERCHOLESTEROLEMIA; FLOW CYTOMETRY; GENETICS; HUMAN; LOW DENSITY LIPOPROTEIN RECEPTOR GENE; MUTANT; NONSENSE MUTATION; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; CELL CULTURE; DRUG EFFECT; HYPERLIPOPROTEINEMIA TYPE 2; LYMPHOCYTE; METABOLISM; POLYMERASE CHAIN REACTION; PROTEIN SYNTHESIS; RNA STABILITY; STOP CODON; VIRUS CELL TRANSFORMATION; WESTERN BLOTTING;

HUMAN HERPESVIRUS 4;

BLOTTING, WESTERN; CELL TRANSFORMATION, VIRAL; CELLS, CULTURED; CODON, NONSENSE; CYCLOHEXIMIDE; FLOW CYTOMETRY; HERPESVIRUS 4, HUMAN; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPOPROTEINS, LDL; LYMPHOCYTES; POLYMERASE CHAIN REACTION; PROTEIN BIOSYNTHESIS; PROTEIN SYNTHESIS INHIBITORS; RECEPTORS, LDL; RNA STABILITY; RNA, MESSENGER;

EID: 67649730097     PISSN: 00365513     EISSN: 15027686     Source Type: Journal    
DOI: 10.1080/00365510802707163     Document Type: Article

References (34)

1. Müller C. Xanthomata, hypercholesterolemia, angina pec-toris. Acta Med Scand 1938;89:74-85.
2. Goldstein JL, Basu SK, Brown MS. Receptor-mediated endocytosis of low-density lipoprotein in cultured cells. Methods Enzymol 1983;98:241-60.
3. Goldstein JL, Brown MS. Molecular medicine. The cholesterol quartet. Science 2001;292:1310-12.
4. Culbertson MR. RNA surveillance - unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet 1999;15:74-80.
5. Byers PH. Killing the messenger: new insights into nonsense-mediated mRNA decay. J Clin Invest 2002;109:3-6.
6. Brooks DA, Muller VJ, Hopwood JJ. Stop-codon read-through for patients affected by a lysosomal storage disorder. Trends Mol Med 2006;12:367-73.
7. Kuzmiak HA, Maquat LE. Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med 2006;12:306-16.
8. Holbrook JA, Neu-Yilik G, Hentze MW, Kulozik AE. Nonsense-mediated decay approaches the clinic. Nat Genet 2004;36:801-8.
9. Weiss N, Binder G, Keller C. Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia. J Inherit Metab Dis 2000;23:778-90.
10. Dedoussis GVZ, Skoumas J, Pitsavos C, Choumerianou DM, Genschel J, Schmidt H, Stefanadis C. FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations. Eur J Clin Invest 2004;34:402-9.
11. Maquat LE. Nonsense-mediated mRNA decay in mammals. J Cell Sci 2005;118:1773-6.
12. Carter MS, Doskow J, Morris P, Li SL, Nhim RP, Sandstedt S, Wilkinson MF. 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 1995;270:28995-9003.
13. Martin R, Mogg AE, Heywood LA, Nitschke L, Burke JF. Aminoglycoside suppression at Uag, Uaa and Uga codons in Escherichia-coli and human-tissue culture cells. Molec Gen Genet 1989;217:411-18.
14. Nagy E, Maquat LE. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 1998;23:198-9.
15. Wilschanski M, Yahav Y, Yaacov Y, Blau H, Bentur L, Rivlin J, Aviram M, Bdolah-Abram T, Bebok Z, Shushi L, Kerem B, Kerem E. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 2003;349:1433-41.
16. Linde L, Boelz S, Nissim-Rafinia M, Oren YS, Wilschanski M, Yaacov Y, Virgilis D, Neu-Yilik G, Kulozik AE, Kerem E, Kerem B. Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. J Clin Invest 2007;117:683-92.
17. Leren TP, Tonstad S, Gundersen KE, Bakken KS, Rodningen OK, Sundvold H, Ose L, Berg K. Molecular genetics of familial hypercholesterolaemia in Norway. J Intern Med 1997;241:185-94.
18. Leren TP, Sundvold H, Rodningen OK, Tonstad S, Solberg K, Ose L, Berg K. Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia. Hum Genet 1995;95:671-6.
19. Leren TP, Solberg K, Rodningen OK, Tonstad S, Ose L. Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. Atherosclerosis 1994; 111:175-82.
20. Maartmann-Moe K, Berg-Johnsen P. Genetics of the low density lipoprotein receptor: I. Low density lipoprotein receptor activity in cultured fibroblasts from subjects with or without familial hypercholesterolemia. Clin Genet 1981;20: 90-103.
21. Wall FE, Henkel RD, Stern MP, Jenson HB, Moyer MP. An efficient method for routine Epstein-Barr virus immortalization of human B lymphocytes. In Vitro Cell Dev Biol Anim 1995;31:156-9.
22. Neitzel H. A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 1986;73:320-6.
23. Beisiegel U, Schneider WJ, Goldstein JL, Anderson RG, Brown MS. Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia. J Biol Chem 1981;256:11923-31.
24. Church GM, Gilbert W. Genomic sequencing. Proc Natl Acad Sci USA 1984;81:1991-5.
25. Peacock SL, Bates MP, Russell DW, Brown MS, Goldstein JL. Human low density lipoprotein receptor expressed in Xenopus oocytes. Conserved signals for O-linked glycosyla-tion and receptor-mediated endocytosis. J Biol Chem 1988;263:7838-45.
26. Noensie EN, Dietz HC. A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition. Nature Biotechnol 2001;19:434-9.
27. Mankin AS, Liebman SW. Baby, don't stop! Nat Genet 1999;23:8-10.
28. Wagner E, Lykke-Andersen J. mRNA surveillance: the perfect persist. J Cell Sci 2002;115:3033-8.
29. Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Molec Cell Biol 2004;5:89-99.
30. Wilkinson MF. A new function for nonsense-mediated mRNA-decay factors. Trends Genet 2005;21:143-8.
31. Khajavi M, Inoue K, Lupski JR. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet 2006;14:1074-81.
32. Begg EJ, Barclay ML. Aminoglycosides - 50 years on. Br J Clin Pharmacol 1995;39:597-603.
33. Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science 1986;232:34-47.
34. Goldstein JL, Brown MS. Regulation of the mevalonate pathway. Nature 1990;343:425-30.