Rapid identification of RT-PCR clones containing translation-terminating mutations

Mutation Research - Genetic Toxicology and Environmental Mutagenesis

Volumn 388, Issue 1, 1997, Pages 21-26

  Binnie, Cameron G ^a   Kam Morgan, Lauren N W ^a   Cayouette, Matthew C ^a   Marra, Giancarlo ^b   Boland, C Richard ^b   Luce, Michael ^a,c  

^a LABORATORY CORPORATION OF AMERICA   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c Myriad Genetic Laboratories   (United States)

Author keywords

RT PCR clone; Translocation terminating mutation

Indexed keywords

MESSENGER RNA;

ARTICLE; CLONE; DNA SEQUENCE; HUMAN; HUMAN CELL; MOLECULAR CLONING; MUTATION; NEUROFIBROMATOSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0030977357     PISSN: 13835718     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1383-5718(96)00104-0     Document Type: Article

References (15)

1. Urlaub, G., P.J. Mitchell, C.J. Cuidad and L.A. Chasin (1989) Nonsense mutations in the dihydrofolate reductase genes affect RNA processing, Mol. Cell. Biol., 9, 2868-2880.
2. Gaspar, M.L., T. Meo, P. Bourgarel, J.L. Guent and M. Tusi (1991) A single deletion in the Tfm androgen receptor gene creates a short-lived mRNA that directs internal translation initiation, Proc. Natl. Acad. Sci. USA, 88, 8606-8610.
3. Lim, S.K., C. Sigmund, K.W. Gross and L.E. Maquat (1992) Nonsense codons in the human B-globin mRNA result in the production of mRNA degradation products, Mol. Cell. Biol., 12, 1149-1161.
4. Baserga, S.J. and E.J. Benz (1992) B-globin nonsense mutation:deficient accumulation of mRNA occurs despite normal cytoplasmic stability, Proc. Natl. Acad. Sci. USA, 89, 2935-2939.
5. Belgrader, P. and L.E. Maquat (1994) Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping, Mol. Cell. Biol., 14, 6326-6336.
6. Roest, P.A.M., R.G. Roberts, S. Sugino, G-J.B. van Ommen and J.T. den Dunnen (1993) Protein truncation test (PTT) for rapid detection of translation-terminating mutations, Hum. Mol. Genet., 2, 1719-1721.
7. Powell, S.M., G.M. Petersen, A.J. Krush, S. Booker, J. Jen, F.M. Giardiello, S.R. Hamilton, B. Vogelstein and K.W. Kinzler (1993) Molecular diagnosis of familial adenomatous polyposis, N. Engl. J. Med., 329, 1982-1987.
8. Heim, R.A., L.N.W. Kam-Morgan, C.G. Binnie, D.D. Corns, M.C. Cayouette, R.A. Farber, A.S. Aylsworth, L.M. Silverman and M.C. Luce (1995) Distribution of 13 truncating mutations in the neurofibromatosis 1 gene, Hum. Mol. Genet., 4, 975-981.
9. Hogervorst, F.B.L., R.S. Cornelis, M. Bout, M. van Vliet, J.C. Oosterwijk, R. Olmer, B. Bakker, J.G.M. Klijn, H.F.A. Vasen, H. Meijers-Heijboer, F. H. Menko, C.J. Cornelisse, J.T. den Dunnen, P. Devilee and G-J.B. van Ommen (1995) Rapid detection of BRCA1 mutations by the protein truncation test, Nature Genet., 10, 208-212.
10. Papadopoulos, N., N.C. Nicolaides, Y-F. Wei, S.M. Ruben, K.C. Carter, C.A. Rosen, W.A. Haseltine, R.D. Fleischmann, C.M. Fraser, M.D. Adams, J.C. Venter, S.R. Hamilton, G.M. Petersen, P. Watson, H.T. Lynch, P. Peltomaki, J-P. Mecklin, A. de la Chapelle, K.W. Kinzler and B. Vogelstein (1994) Mutation of a mutL homolog in hereditary colon cancer, Science, 263, 1625-1629.
11. Liu, B., R.E. Parsons, S.R. Hamilton, G.M. Petersen, H.T. Lynch, P. Watson, S. Markowitz, J.K.V. Willson, J. Green, A. de la Chapelle, K.W. Kinzler and B. Vogelstein (1994) hMSH2 Mutations in hereditary nonpolyposis colorectal cancer kindreds, Cancer Res., 54, 4590-4594.
12. Nicolaides, N.C., N. Papadopoulos, B. Liu, Y-F. Wei, K.C. Carter, S.M. Ruben, C.A. Rosen, W.A. Haseltine, R.D. Fleischmann, C.M. Fraser, M.D. Adams, J.C. Venter, M.G. Dunlop, S.R. Hamilton, G.M. Petersen, A. de la Chapelle, B. Vogelstein and K.W. Kinzler (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer, Nature, 371, 75-80.
13. Luce, M.C., G. Marra, D.P. Chauhan, L. Laghi, J.M. Carethers, S.P. Cherian, M. Hawn, C.G. Binnie, L.N.W. Kam-Morgan, M.C. Cayouette, M. Koi and C.R. Boland (1995) In vitro transcription/translation assay for the screening of hMLH1 and hMSH2 mutations in familial colon cancer, Gastroenterology, 109, 1368-1374.
14. Chomczynski, P. and N. Sacchi (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction, Anal. Biochem., 162, 156-159.
15. Sambrook, J., E.F. Fritsch and T. Maniatis (1989) Molecular Cloning: A laboratory Manual, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, pp. 1.38-1.39.