Development of a Premature Stop Codon-detection method based on a bacterial two-hybrid system

BMC Biotechnology

Volumn 6, Issue , 2006, Pages

  Real, Sebastián M ^a   Marzese, Diego M ^a   Gomez, Laura C ^a   Mayorga, Luis S ^a   Roqué, María ^a  

^a UNIVERSIDAD NACIONAL DE CUYO   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

BACTERIAL TWO-HYBRID SYSTEM; GENETIC DIAGNOSIS; HEREDITARY CANCERS; HUMAN GENES; PREMATURE STOP CODONS (PSCS);

BACTERIA; DIAGNOSIS; GENES; GENETIC ENGINEERING; ONCOLOGY;

BIOTECHNOLOGY;

ADENYLATE CYCLASE; BRCA1 PROTEIN; CYCLIC AMP; PROTEIN MSH2;

ALLELE; ARTICLE; BORDETELLA PERTUSSIS; BREAST CANCER; COLORECTAL CANCER; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; ENZYME ACTIVITY; ENZYME INHIBITION; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; NONSENSE MUTATION; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PROTEIN ANALYSIS; PROTEIN PROCESSING; RECOMBINANT PLASMID; REPORTER GENE; SENSITIVITY AND SPECIFICITY; STOP CODON; TWO HYBRID SYSTEM; WESTERN BLOTTING;

CODON, NONSENSE; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; DNA, BACTERIAL; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOME, HUMAN; HUMANS; MUTS HOMOLOG 2 PROTEIN; PLASMIDS; SEQUENCE ANALYSIS, DNA; TWO-HYBRID SYSTEM TECHNIQUES;

BACTERIA (MICROORGANISMS); BORDETELLA PERTUSSIS;

EID: 33748771199     PISSN: 14726750     EISSN: 14726750     Source Type: Journal    
DOI: 10.1186/1472-6750-6-38     Document Type: Article

References (31)

1. Powell S, Petersen G, Cruz A, Broker S, Jen J, Giardiello F, Hamilton S, Vogelstein B, Kinzler K: Molecular diagnosis of Familial Adenomatous Polyposis. N Engl J Med 1993, 329:1982-1987.
2. Lynch H, Murray J, Shaw T, Lynch J: Hereditary factors in gynecologic cancer. The Oncologyst 1998, 3:319-338.
3. Hoskins K, Stopfer J, Calzone K, Merajver S, Rebbeck T, Garber J, Weber B: Assesment and couseling far women with a family history of breast cancer. A guide for clinicians. JAMA 1995, 15:577-585.
4. Groden J, Thliveris A, Simowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M: Identification and characterization of the familial adenomatous polyposis coll gene. Cell 1991, 66:589-600.
5. Kinzler K, Nilbert M, Su L, Vogelstein B, Bryan T, Levy D, Smith K, Preisinger A, Hedge P, McKechnie D: Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancer. Science 1991, 251:1366-1370.
6. Futreal P, Liu Q, Shattuck-Eidens D, Cochran C, Harshman K, Tavtigian S, Bennett L, Haugen-Strano A, Swesen J, Miki Y: BRCA1 mutations in primary breast and ovarian carcinomas. Science 1994, 266:120-122.
7. Miki Y, Swesen J, Shttuck-Eidens D, Futreal P, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett L, Ding W. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994, 266:66-7.
8. Bishop D: BRCA1 and BRCA2 and breast cancer incidence: a review. Ann Oncol 1999, 6:113-119.
9. Bubb V, Curtis L, Cunningham C, Dunlop M, Carothers A, Morris R, White S, Bird C, Wyllie A. Microsatellite instability and the role of hMSH2 in sporadic colorectal cancer. Oncogene 1996, 12:2641-2649.
10. Lynch H, Lynch J: 25 years of HNPCC. Anticancer Res 1994, 14:1617-1624.
11. Kahmann S, Herter P, Kuhnen C, Muller K, Muhr G, Martin D, Soddemann M, Muller O: A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations. Hum Mutat 2002, 19:165-172.
12. Kupryjańczyk J, Thor A, Beauchamp R, Merritt V, Edgerton S, Bell D, Yandell D: p53 gene mutations and protein accumulation in human ovarian cancer. Proc Natl Acad Sci USA 1993, 90:4961-4965.
13. Dihlmann S, Gebert J, Siermann A, Herfarth C, von Knebel Doeberitz M: Dominant negative effect of the APC 1309 mutation a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis. Cancer Res 1999, 59:1857-1860.
14. Kim K, Calabrese P, Tavare S, Shibata D: Enhanced stem cell survival in familial adenomatous polyposis. Am J Pathol 2004, 164:1369-1377.
15. Miyoshi Y, Nagase H, Ando H, Horii A, Ichii S, Nakatsuru S, Aoki T, Mild Y, Mori T, Nakamura Y. Somatic mutations of the APC gene in colorectal tumors mutation cluster region in the APC gene. Hum Mol Genet 1992, 1(4):229-233.
16. van der Luijt R, Meera Khan P, Vasen H, van Leeuwen C, Tops C, Roest P, den Dunnen J, Fodde R: Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 1993, 20:1-4.
17. Castilla L, Fergus C, Erdos M, Hoskins K, Calzone K, Garber J, Boyd J, Lubin M, Deshano M, Brody L, Collins F, Weber B: Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nature Genetics 1994, 8:387-391.
18. Kolowski P, Sobczak K, Napierala M, Woznik M, Czarny J, Wlodzimierz J, Kryzosiak J: PCR-SSCP-HDX analysis of pooled DNA for more rapid decetion of germline mutations in large genes. The BRCA1 example. Nucleic Acids Res 1996, 24:1177-1178.
19. Butler J, Bishop D, Barrett J: Strategies for selecting subsets of single-nucleotide polymorphisms; to genotype association studies. BMC Genetics 2005, 6:S72.
20. Den Dunnen J, Van Ommen G: The protein truncation test: A review. Hum Mutat 1999, 14:95-102.
21. Roest P, Roberts R, van der Tuijn A, Heikoop J, van Ommen G, den Dunnen G: Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations. Hum Mol Genet 1993, 2:1719-1721.
22. Ishioka C, Suzuki T, FitzGerald M, Krainer M, Shimodaira H, Shimada A, Nomizu T, Isselbacher K, Haber D, Kanamaru R: Detection of truncating mutations in the BRCA1 and APC gene by using a rapid screening assay in yeast. Proc Natl Acad Sci USA 1997, 94:2449-2453.
23. Kataoka A, Tada M, Yano M, Furuuchi K, Cornain S, Hamada J, Suzuki G, Yamada H, Todo S, Moriuchi T: Development of a yeast stop codon assay readily and generally aplicable to human genes. Am J Pathol 2001, 159:1239-1245.
24. Varesco L, Groden J, Spirino L, Robertson M, Weiss R, Gismondi V, Ferrara G, White R: A rapid screening method to detect nonsense and frameshift mutations: identification of disease-causing APC alleles. Cancer Res 1993, 53:5S81-5584.
25. - colony phenotype detection. Biochem Biophys Res Commun 2002, 298:37-40.
26. Karimova G, Pidoux J, Ullmann A, Ladant D: A bacterial two hybrid system based on a reconstituted signal transduction pathway. Proc Natl Acad Sci USA 1998, 95:5752-5756.
27. Kawamura M, Kishimoto J, Utsumi R, Himeno M, Komano T, Aiba H: Negative regulation of adenylate ciclase gene (cya) expression by cyclic AMP-cyclic AMP receptor protein in Escherichia coli. Studies with cya-lac protein and operon fusion plasmids. J Bacteriol 1985, 164:878-877.
28. Yazici H, Glendon G, Yazici H, Burnie S, Saip S, Buryru F, Bengisu E, Andrulis I, Delay N, Ozcelik H: BRCA1 and BRCA2 mutations in Turkish familial and non-familial ovarian cancer patients: a high incidence of mutation in non-familial cases. Human Mutat 2002, 20:28-34.
29. Casey G, Lindor N, Papdopoulos N, Thibodeau S, Moskow J, Steelman S, Buzin C, Sommer S, Colli C, Butz M, Aronson M, Gallinger S, Barker M, Young J, Jass J, Hopper J, Diep A, Bapat B, Salem M, Seminara D, Haile R: Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. JAMA 2005, 293:799-809.
30. Frischmeyer P, Dietz H: Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet, 1999, 8:1893-1900.
31. Roqué M, Pusiol E, Giribet G, Perinetti H, Mayorga L: Diagnosis by directed mutagenesis of a mutation at the hMSH2 gene associated with hereditary nonpolyposis colorectal cancer. Medicina (B Aires) 2000, 60:188-194.