The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect

Human Genetics

Volumn 105, Issue 5, 1999, Pages 388-398

  Spirio, Lisa ^a,e   Green, Jane ^b   Green, R ^b   Robertson, Jennifer ^a   Robertson, Margaret ^a   Otterud, Brith ^a   Sheldon, John ^c   Howse, Erica ^b   Groden, Joanna ^d   White, Ray ^a   Leppert, Mark ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^c New World Island Clinic   (Canada)

^d UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^e WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ADULT; AGED; ARTICLE; CANADA; COLON POLYPOSIS; DISEASE SEVERITY; FAMILY STUDY; FEMALE; FOUNDER EFFECT; GERM LINE; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; RNA SPLICING; TUMOR SUPPRESSOR GENE;

ADENOMATOUS POLYPOSIS COLI; ADULT; AGED; BASE SEQUENCE; DNA; DNA PRIMERS; EMIGRATION AND IMMIGRATION; EXONS; FEMALE; FOUNDER EFFECT; GENES, APC; GERM-LINE MUTATION; HUMANS; INTRONS; MALE; MIDDLE AGED; NEWFOUNDLAND; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING;

EID: 0032733623     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051121     Document Type: Article

References (60)

1. Bodmer WF, Bailey C, Bodmer J, Bussey H, Ellis A, German P, Lucibello F, et al (1987) Localization of the gene for familial polyposis on chromosome 5. Nature 328:614-616
2. Burt R (1995) Polyposis syndromes. In: Yamada T (ed) Textbook of Gastroenterology, vol 2. Lippincott, Philadelphia, pp 1674-1696
3. Cama A, Esposito DL, Palmirotta R, Curia MC, Ranieri A, Ficari F, Valanzano R, et al (1994) A novel mutation at the splice junction of exon 9 of the APC gene in familial adenomatous polyposis. Hum Mut 3:305-308
4. Cormier RT, Hong KH, Halberg RB, Hawkins TL, Richardson P, Mulherkar R, Dove WF, et al (1997) Secretory phospholipase Pla2g2a confers resistance to intestinal tumorigenesis. Nat Genet 17:88-91
5. Curia MC, Esposito DL, Aceto G, Palmirotta R, Crognale S, Valanzano R, Ficari F, et al (1998) Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene mutations. Hum Mut 11:197-201
6. Dihlmann S, Gebert J, Siermann A, Herfarth C, Knebel Doeberitz M von (1999) Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis. Cancer Res 59:1857-1860
7. Dobbie Z, Spycher M, Hurliman R, Amman R, Amman T, Roth J, Muller A, et al (1994) Mutational analysis of the first 14 exons of the adenomatous polyposis (APC) gene. Eur J Cancer 30A: 1709-1713
8. Dobbie Z, Spycher M, Mary J-L, Haner M, Guldenschuh I, Hurliman R, Amman R, et al (1996) Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene. J Med Genet 33:274-280
9. Eccles DM, Luijt R van der, Breukel C, Bullman H, Bunyan D, Fisher A, Barber J, et al (1996) Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet 59:1193-1201
10. 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 protein. Hum Genet 97:579-584
11. Gardner RJM, Kool D, Edkins D, Walpole IR, Macrae FA, Nasioulas S, Scott WJH (1997) The clinical correlates of a 3' truncating mutation (codons 1982-1983) in the adenomatous polyposis coli gene. Gastroenterol 113:326-331
12. Giardiello F, Brensiger J, Luce M, Petersen G, Cayouette M, Krush A, Bacon J, et al (1997) Phenotypic expression of disease in families that have mutations in the 5' region of the adenomatous polyposis coli gene. Ann Intern Med 126:514-519
13. Gismondi V, Stagnaro P, Pedemonte S, Biticchi R, Presciuttini S, Grammatico P, Sala P, Bertario L, Groden J, Varesco L (1998) Chain-terminating mutations in the APC gene lead to alterations in APC RNA and protein concentration. Genes Chromosom Cancer 22:278-86
14. Green JS (1995) Development, implementation and evaluation of clinical and genetic screening programs for hereditary cancer syndromes. PhD thesis, Memorial University of Newfoundland, St. John's, Newfoundland, Canada
15. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, et al (1991) Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66:589-601
16. Groden J, Gelbert L, Thliveris A, Nelson L, Robertson M, Goslyn G, Samowitz W, et al (1993) Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. Am J Hum Genet 52:263-272
17. Joslyn G, Carlson M, Thliveris A, Albertsen H, Gelbert L, Samowitz W, Groden J, et al (1991) Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 66:601-613
18. Joslyn G, Richardson D, White R, Alber T (1993) Dimer formation by the N-terminus of the APC protein. Proc Natl Acad Sci USA 90:11109-11113
19. Kinzler KW, Vogelstein B (1996) Lesson from hereditary colorectal cancer. Cell 87:159-170
20. Kinzler K, Nilbert M, Su L, Vogelstein B, Bryan T, Levy D, Smith K, et al (1991) Identification of FAP locus genes from chromosome 5q21. Science 253:661-665
21. Kraus C, Gunther K, Vogler A, Hohenberger W, Pfeiffer RA, Ballhausen WG (1998) Rapid RT-PCR based protein truncation test in the screening for 5' located mutations of the APC gene. Mol Cell Probes 12:143-147
22. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
23. Leppert M, Dobbs M, Scambler P, O'Connell P, Nakamura Y, Stauffer D, Woodward S, et al (1987) The gene for familial polyposis coli maps to the long arm of chromosome 5. Science 238:1411-1413
24. Leppert M, Burt R, Hughes J, Samowitz W, Nakamura Y, Woodward S, Gardner E, et al (1990) Genetic analysis of an inherited predispostion to colon cancer in a family with a variable number of adenomatous polyps. N Engl J Med 322:904-908
25. Luijt R van der, Vasen H, Tops C, Breukel C, Fodde R, Khan P (1995) APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis. Hum Genet 96:705-710
26. Luijt RB van der, Khan PM, Vasen HFA, Breukel C, Tops CMJ, Scott RJ, Fodde R (1996) Germline mutations in the 3' part of the APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum Genet 98:727-734
27. Lynch HT, Smyrk TC (1998) Classification of familial adenomatous polyposis: a diagnostic nightmare. Am J Hum Genet 62: 1288-1289
28. MacPhee M, Chepenik KP, Liddell RA, Nelson KK, Siracusa LD, Buchberg AM (1995) The secretory phospholipase A2 gene is a candidate for the Mom1 locus, a major modifier of APC/Min-induced intestinal neoplasia. Cell 81:957-966
29. Mahmoud NN, Boolbol SK, Bilinski RT, Martucci C, Chadburn A, Bertagnolli MM (1997) Apc gene mutation is associated with a dominant-negative effect upon intestinal cell migration. Cancer Res 57:5045-5050
30. Mahmoud NN, Bilinski RT, Churchill MR, Edelmann W, Kucherlapati R, Bertagnolli MM (1999) Genotype-phenotype correlation in murine Apc mutation: differences in enterocyte migration and response to sulindac. Cancer Res 59:353-359
31. Mannion JJ (1977) The peopling of Newfoundland: essays in historic geography. St. John's, Memorial University of Newfoundland
32. Maritime History Archive, Memorial University of Newfoundland, St. John's, Newfoundland, Canada
33. Moser AR, Pilot HC, Dove WF (1990) A dominant mutation that predisposes to multiple intestinal neoplasia in mice. Science 247:322-324
34. Moser AR, Dove WF, Roth KA, Gordon JI (1992) The Min (multiple intestinal neoplasia) mutation: its effect on gut epithelial cell differentiaton and interaction with a modifier system. J Cell Biol 116:1517-1526
35. Newfoundland Archives, Colonial Building, St. John's, Newfoundland
36. Newfoundland Studies Archives, Queen Elizabeth Library, Memorial University of Newfoundland, St. John's, Newfoundland, Canada
37. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando A, Horii A, Koyama K, et al (1991) Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253:665-669
38. Orita M, Iwahana K, Kanazawa H, Hayashi K, Sekiya T (1989a) Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770
39. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989b) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879
40. Oshima M, Dinchuk JE, Kargman SL, Oshima H, Hancock B, Kwong E, et al (1996) Suppression of intestinal polyposis in Apc delta716 knockout mice by inhibition of cyclooxygenase 2 (COX-2). Cell 87:803-809
41. Polakis P (1995) Mutations in the APC gene and their implications for protein structure and function. Curr Opin Genet Dev 5: 66-71
42. Powell S, Petersen G, Krush A, Booker S, Jen J, Giardiello F, Hamilton S, et al (1993) Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 329:1982-1987
43. Samowitz WS, Thliveris A, Spirio LN, White R (1995) Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attentuated APC. Cancer Res 55:3732-3734
44. Scott RJ, Luijt R van der, Spycher M, Mary JL, Muller A, Hoppeler T, Haner M, et al (1995) Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes. Gut 36:731-736
45. Scott RJ, Froggatt NJ, Trembath RC, Evans DG, Hodgson SV, Mayer ER (1996) Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation. Hum Mol Genet 5:1921-1924
46. Smith KJ, Johnson KA, Bryan TM, Hill DE, Markowitz S, Willson JK, Paraskeva C, et al. (1993) The APC gene product in normal and tumor cells. Proc Natl Acad Sci USA 90:2846-2650
47. Smith-Ravin J, Pack K, Hodgson S, Tay S, Phillips R, Bodmer W (1994) APC mutation associated with late onset of familial adenomatous polyposis. J Med Genet 31:888-890
48. Soravia C, Berk T, Madlensky L, Mitri A, Cheng H, Gallinger S, Cohen Z, et al (1998) Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet 62: 1290-1301
49. Spirio L, Nelson L, Joslyn G, Leppert M, White R (1991) A CA repeat 30-70 kb downstream from the adenomatous polyposis coli (APC) gene. Nucleic Acids Res 19:6348
50. Spirio L, Otterud B, Stauffer D, Lynch H, Lynch P, Watson P, Lanspa S, et al (1992) Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus. Am J Hum Gen 51:92-100
51. Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, et al (1993) Alleles of the APC gene: an attenuated form of familial polyposis. Cell 75:951-957
52. Spirio LN, Kutchera W, Winstead MV, Pearson B, Kaplan C, Robertson M, Lawrence E, et al (1996) Three secretory phospholipase A (2) genes that map to human chromosome 1p35-36 are not mutated in individuals with attenuated adenomatous polyposis coli. Cancer Res 56:955-958
53. Spirio LN, Dixon DA, Robertson J, Robertson M, Barrows J, Traer E, Burt R, et al (1998a) The inducible prostaglandin biosythetic enzyme, cyclooxygenase 2 (COX-2), is not mutated in patients with attenuated adenomatous adenomatous coli. Cancer Res 58:4909-4912
54. Spirio LN, Samowitz W, Robertson J, Robertson M, Burt RW, Leppert M, White R (1998b) Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps. Nat Genet 20:385-388
55. Su L-K, Kinzler KW, Vogelstein B, Preisinger A, Moser A, Luongo C, Gould KA, et al (1992) Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC gene. Science 256:668-670
56. Su L-K, Johnson KA, Smith KJ, Hill DE, Vogelstein B, Kinzler K (1993) Association between wild type and mutant APC gene products. Cancer Res 53:2728-2731
57. Varesco L, Gismondi V, Presciuttini S, Groden J, Spirio L, Sala P, Rossetti C, et al (1994) Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death. Hum Genet 93:281-286
58. Walon C, Kartheuser A, Michils G, Smaeers, Lannoy N, Ngounou P, Mertens G, et al (1997) Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds. Hum Genet 100:601-605
59. Young J, Simms LA, Tarish J, Buttenshaw R, Knight N, Anderson GJ, Bell A, et al (1998) A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9. Hum Mutat 11:450-455
60. Young TL, Green J, Green RC (1992) Inherited colon cancer, with a variable degree of polyposis maps to the APC locus in a large Newfoundland kindred. Am J Hum Gent 51:A74