Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques

Cancer Research

Volumn 57, Issue 15, 1997, Pages 3288-3293

  Andreutti Zaugg, Corinne ^a   Scott, Rodney J ^b   Iggo, Richard ^a  

^a SWISS INST FOR EXP CANCER RESEARCH   (Switzerland)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

HYBRID PROTEIN;

ARTICLE; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA SEQUENCE; GENE MUTATION; HUMAN; HUMAN CELL; PLASMID; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FOLDING; RIBOSOME; RNA ANALYSIS; SIGNAL NOISE RATIO; STOP CODON;

BLOTTING, WESTERN; CELLS, CULTURED; CODON, NONSENSE; CODON, TERMINATOR; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR; DNA-BINDING PROTEINS; GENETIC SCREENING; HUMANS; LYMPHOCYTES; MUTATION; MUTS HOMOLOG 2 PROTEIN; PROTO-ONCOGENE PROTEINS; PUROMYCIN; YEASTS;

EID: 0030746291     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Weber, T. Clinical surveillance recommendations adopted for HNPCC. Lancet, 348: 465, 1996
2. Ionov, Y., Peinado, M. A., Malkhosyan, S., Shibata, D., and Perucho, M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonie carcinogenesis. Nature (Lond.), 363: 558-561, 1993.
3. Lynch, H. T., Smyrk, T. C., Watson, P., Lanspa, S. J., Lynch, J. F., Lynch, P. M., Cavalieri, R. J., and Boland, C. R. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology, 104: 1535-1549, 1993.
4. Kolodner, R. D., Hall, N. R., Lipford, J., Kane, M. F., Rao, M. R., Morrison, P., Wirth, L., Finan, P. J., Burn, J., Chapman, P., Earabino, C., Merchant, E., and Bishop, D. T. Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for MSH2 mutations. Genomics, 24: 516-526, 1994.
5. Nan, H. J., Maruyama, M., Baba, S., Park, J. G., and Nakamura, Y. Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary nonpolyposis colorectal cancer (HNPCC). Hum. Mol. Genet., 4: 237-242, 1995.
6. Kolodner, R. D., Hall, N. R., Lipford, J., Kane, M. F., Morrison, P. T., Finan, P. J., Bum, J., Chapman, P., Earabino, C., Merchant, E., and Bishop, D. T. Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for MLH1 mutations. Cancer Res., 55: 242-248, 1995.
7. Varesco, L., Groden, J., Spirio, L., Robertson, M., Weiss, R., Gismondi, V., Ferrara, G. B., and White, R. A rapid screening method to detect nonsense and frameshift mutations: identification of disease-causing APC alleles. Cancer Res., 53: 5581-5584, 1993.
8. Ishioka, C., Frebourg, T., Van, Y. X., Vidal, M., Friend, S. H., Schmidt, S., and Iggo, R. Screening patients for heterozygous p53 mutations using a functional assay in yeast. Nat. Genet., 5: 124-129, 1993.
9. Flaman, J. M., Frebourg, T., Moreau, V., Charbonnier, F., Martin, C., Chappuis, P., Sappino, A. P., Limacher, I. M., Bron, L., Benhattar, J., Tada, M., van Meir, E., Estieicher, A., and Iggo, R. A simple p53 functional assay for screening cell lines, blood, and tumors. Proc. Natl. Acad. Sci. USA, 92: 3963-3967, 1995.
10. Maquat, L. E. When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA, 1: 453-465, 1995.
11. Leach, F. S., Nicolaides, N. C., Papadopoulos, N., Liu, B., Jen, J., Parsons, R., Peltomaki, P., Sistonen, P., Aaltonen, L. A., and Nystrom, L. M. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell, 75: 1215-1225, 1993.
12. Bonneaud, N., Ozier, K. O., Li, G. Y., Labouesse, M., Minvielle, S. L., and Lacroute, F. A family of low and high copy replicative, integrative and single-stranded S. cerevisiae/E. coli shuttle vectors. Yeast, 7: 609-615, 1991.
13. Guarente, L., and Plashne, M. Fusion of E. coli lacZ gene to the cytochrome c gene of S. cerevisiae. Proc. Natl. Acad. Sci. USA, 78: 2199-2203, 1981.
14. Buerstedde, J. M., Alday, P., Torhorst, J., Weber, W., Muller, H., and Scott, R. Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. J. Med. Genet., 32: 909-912, 1995.
15. Mary, J. L., Bishop, T., Kolodner, R., Lipford, J. R., Kane, M., Weber, W., Torhorst, J., Muller, H., Spycher, M., and Scott, R. J. Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. Hum. Mol. Genet., 3: 2067-2069, 1994.
16. Waridel, F., Estreicher, A., Bron, L., Flaman, J-M., Fontolliet, C., Monnier, P., Frebourg, T., and Iggo, R. Field cancerisation and polyclonal p53 mutation in the upper aero-digestive tract. Oncogene, 17: 163-170, 1997.
17. Barta, I., and Iggo, R. Autoregulation of expression of the yeast Dbp2p "DEAD-box" protein is mediated by sequences in the conserved DBP2 intron. EMBO J., 14: 3800-3808, 1995.
18. Liu, B., Parsons, R. E., Hamilton, S. R., Petersen, G. M., Lynch, H. T., Watson, P., Markowitz, S., Willson, J. K., Green, J., and de la Chapelle, A. hMSH2 mutations in hereditary non-polyposis colorectal cancer kindreds. Cancer Res., 54: 4590-4594, 1994.
19. Powell, S. M., Petersen, G. M., Krush, A. J., Booker, S., Jen, J., Giardiello, F. M., Hamilton, S. R., Vogelstein, B., and Kinzler, K. W. Molecular diagnosis of familial adenomatous polyposis. N. Engl. J. Med., 329: 1982-1987, 1993.
20. Tada, M., Iggo, R., Waridel, F., Nozaki, M., Matsumoto, R., Sawamura, Y., Shinohe, Y., Ikeda, J., and Abe, H. Reappraisal of p53 Mutations in Human Malignant Astrocytic Neoplasms by p53 Functional Assay: comparison with Conventional Structural Analyses. Mol. Carcinog., 18: 171-176, 1997.
21. Zhang, S., Ruiz-Echevarria, M. J., Quan, Y., and Peltz, S. W. Identification and characterization of a sequence motif involved in nonsense-mediated mRNA decay. Mol. Cell Biol., 15: 2231-2244, 1995.