Multiple products in the protein truncation test due to alternative splicing in the adenomatous polyposis coli (APC) gene

Human Genetics

Volumn 98, Issue 5, 1996, Pages 528-533

  Bala, Shashi ^a   Kraus, Cornelia ^a   Wijnen, Juul ^b   Khan, P Meera ^b   Ballhausen, Wolfgang G ^a  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^b LEIDEN UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; POLYPEPTIDE;

ALTERNATIVE RNA SPLICING; ARTICLE; CLINICAL ARTICLE; COLON POLYPOSIS; EPSTEIN BARR VIRUS; EXON; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON; TRANSLATION REGULATION;

ADENOMATOUS POLYPOSIS COLI; ALTERNATIVE SPLICING; AUTORADIOGRAPHY; BLOTTING, WESTERN; DNA; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; HUMANS; POLYMERASE CHAIN REACTION;

HUMAN HERPESVIRUS 4;

EID: 0029852438     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050254     Document Type: Article

References (20)

1. Beroud C, Soussi T (1996) APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 24 : 121-124
2. Fearon ER, Vogelstein B (1990) A genetic model for colorectal tumorigenesis. Cell 61 : 759-767
3. Friedl W, Meuschel S, Caspari R, Lamberti C, Krieger S, Sengteller M, Propping P (1996) Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC gene. Hum Genet 97 : 579-584
4. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, Paslier Le D, Abderrahim H, Cohen D, Leppert M, White R (1991) Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66 : 589-600
5. Kinzler KW, Nilbert MC, Su L-K, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D, Finniear R, Markham A, Groffen J, Boguski MS, Altschul SF, Horii A, Ando H, Miyoshi Y, Miki Y, Nishisho I, Nakamura Y (1991) Identification of FAP locus genes from chromosome 5q21. Science 253 : 661-665
6. Kraus C, Reina-Sanchez J, Sulekova Z, Ballhausen WG (1996) Immunochemical identification of novel high molecular weight protein isoforms of the adenomatous polyposis coli (APC) gene. Int J Cancer 65 : 383-388
7. Luijt R van der, Meera Khan P, Vasen H, Leeuwen C van, Tops C, Roest P, Dunnen J den, Fodde R (1994) Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 20 : 1-4
8. Luijt RB van der, Hogevorst FBL, Dunnen JT den, Meera Khan P, Ommen GJB van (1996) PTT: protein truncation test. In: Landegren U (ed) Laboratory protocols for mutation detection. Oxford University Press, pp 140-151
9. Mandl M, Kadmon M, Sengteller M, Caspari R, Propping P, Friedl W (1994) A somatic mutation in the adenomatous polyposis coli (APC) gene in peripheral blood cells - implications for predictive diagnosis. Hum Mol Genet 3 : 1009-1011
10. Miyoshi Y, Nagase H, Ando H, Horii A, Ichii S, Nakatsuru S, Aoki T, Miki Y, Mori T, Nakamura Y (1992) Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. Hum Mol Genet 1 : 229-233
11. Munemitsu S, Souza B, Müller O, Albert I, Rubinfeld B, Polakis P (1994) The APC gene product associates with microtubules in vivo and promotes their assembly in vitro. Cancer Res 54 : 3676-3681
12. Powell SM, Petersen GM, Krush AJ, Booker S, Jen J, Giardiello FM, Hamilton SR, Vogelstein B, Kinzler KW (1993) Molecular diagnosis of familial adenomatous polyposis. New Engl J Med 329 : 1982-1987
13. Rubinfeld B, Souza B, Albert I, Müller O, Chamberlain SH, Masiarz FR, Munemitsu S, Polakis P (1993) Association of the APC gene product with β-catenin. Science 262 : 1731-1734
14. Smith KJ, Johnson KA, Bryan TM, Hill DE, Markowitz S, Willson JKV, Paraskeva C, Petersen GM, Hamilton SR, Vogelstein B, Kinzler KW (1993) The APC gene product in normal and tumor cells. Proc Natl Acad Sci USA 90 : 2846-2850
15. Smith KJ, Levy DB, Maupin P, Pollard D, Vogelstein B, Kinzler KW (1994) Wild-type but not mutant APC associates with the microtubule cytoskeleton. Cancer Res 54 : 3672-3675
16. Su L-K, Johnson KA, Smith KJ, Hill DE, Vogelstein B, Kinzler KW (1993a) Association between wild type and mutant APC gene products. Cancer Res 53 : 2728-2731
17. Su L-K, Vogelstein B, Kinzler KW (1993b) Association of the APC tumor suppressor protein with catenins. Science 262 : 1734-1737
18. Sulekova Z, Ballhausen WG (1995) A novel coding exon of the human adenomatous polyposis coli gene. Hum Genet 96 : 469-471
19. Sulekova Z, Reina-Sanchez J, Ballhausen WG (1995) Multiple transcripts of the adenomatous polyposis coli gene coding for exon 15 short open reading frames are expressed in the context of a novel exon 10A-encoded sequence. Int J Cancer 63:435-441
20. Xia L, St. Denis KA, Bapat B (1995) Evidence for a novel exon in the coding region of the adenomatous polyposis coli (APC) gene. Genomics 28 : 589-591