Transcript dosage effect in familial adenomatous polyposis: Model offered by two kindreds with exon 9 APC gene mutations

Human Mutation

Volumn 11, Issue 3, 1998, Pages 197-201

  Curia, Maria Cristina ^a   Esposito, Diana L ^a   Aceto, Gitana ^a   Palmirotta, Raffaele ^a   Crognale, Stefania ^a   Valanzano, Rosa ^b   Ficari, Ferdinando ^b   Tonelli, Francesco ^b   Battista, Pasquale ^a   Mariani Costantini, Renato ^a   Cama, Alessandro ^a  

^a UNIVERSITY OF CHIETI   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Alternative splicing; APC gene; Attenuated adenomatous polyposis coli; Transcript dosage

Indexed keywords

ALTERNATIVE RNA SPLICING; ARTICLE; COLON POLYPOSIS; EXON; FAMILIAL POLYPOSIS; GENE DOSAGE; GENE LOCATION; GENE MUTATION; HUMAN; HUMAN TISSUE; MUTATION RATE; PATHOGENESIS; PRIORITY JOURNAL;

ADENOMATOUS POLYPOSIS COLI; ADOLESCENT; ADULT; ALTERNATIVE SPLICING; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; GENES, APC; GENETIC HETEROGENEITY; HUMANS; INTESTINAL MUCOSA; ITALY; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA, MESSENGER;

EID: 6844257555     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:3<197::AID-HUMU3>3.0.CO;2-F     Document Type: Article

References (13)

1. Cama A, Esposito DL, Palmirotta R, Curia MC, Ranieri A, Ficari F, Valanzano R, Modesti A, Battista P, Tonelli F, Mariani-Costantini R (1994) A novel mutation at the splice junction of exon 9 of the APC gene in familial adenomatous polyposis. Hum Mutat 3:305-308.
2. Dietz HC, Valle D, Francomano CA, Kendzior RJ, Pyeritz RE, Cutting GR (1993) The skipping of constitutive exons in vivo induced by nonsense mutations. Science 259:680-683.
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 protein. 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, Le Paslier 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. Nagase H, Miyoshi Y, Horii A, Aoki T, Petersen GM, Vogelstein B, Maher E, Ogawa M, Maruyama M, Utsunomiya J, Baba S, Nakamura Y (1992) Screening for germline mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. Hum Mutat 1:467-473.
6. Polakis P (1995) Mutations in the APC gene and their implications for protein structure and function. Curr Opin Genet Dev 5:66-71.
7. Samowitz WS, Thliveris A, Spirio LN, White R (1995) Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC. Cancer Res 55:3732-3734-
8. 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.
9. Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterud B, Lynch H, Watson P, Lynch P, Laurent-Puig P, Burt R, Hughes JP, Thomas G, Leppert M, White R (1993) Alleles of the APC gene: An attenuated form of familial polyposis. Cell 75:951-957.
10. Valanzano R, Cama A, Volpe R, Curia MC, Mencucci R, Palmirotta R, Battista P, Fican F, Mariani-Costantini R, Tonelli F (1996) Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Cancer 78:2400-2410.
11. van der Luijt RB, Vasen HFA, Tops CMJ, Breukel C, Fodde R, Meera Khan P (1995) APC mutation in the alternately spliced region of exon 9 associated with late onset familial adenomatous polyposis. Hum Genet 96 705-710.
12. van der Luijt RB, Meera Khan P, Vasen HFA, Breukel C, Tops CMJ, Scott RJ, Fodde R (1996) Germhne mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum Genet 98:727-734.
13. Varesco L, Gismondi V, Presciuttini S, Groden J, Spirio L, Sala P, Rossetti C, De Benedetti L, Bafico A, Heouaine A, Grammatico P, Dei Porto G, White R, Bertario L, Ferrara GB (1994) Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonie cancer death. Hum Genet 93:281-286.