Familial adenomatous polyposis: Aberrant splicing due to missense or silent mutations in the APC gene

Human Mutation

Volumn 24, Issue 5, 2004, Pages 370-380

  Aretz, Stefan ^a   Uhlhaas, Siegfried ^a   Sun, Yuli ^a   Pagenstecher, Constanze ^a   Mangold, Elisabeth ^a   Caspari, Reiner ^a   Möslein, Gabriela ^b   Schulmann, Karsten ^c   Propping, Peter ^a   Friedl, Waltraut ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^c RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

Aberrant splicing; APC; Familial adenomatous polyposis; FAP; SNP; Unclear variants

Indexed keywords

APC PROTEIN;

ADENOMATOUS POLYP; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; EXON; FAMILIAL POLYPOSIS; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL; PROTEIN VARIANT; RNA SPLICING; SCORING SYSTEM; SILENT GENE;

ADENOMATOUS POLYPOSIS COLI; ADULT; ALTERNATIVE SPLICING; BASE SEQUENCE; COMPUTATIONAL BIOLOGY; EXONS; GENES, APC; GERM-LINE MUTATION; HUMANS; INTRONS; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; RNA, MESSENGER; SOFTWARE;

EID: 8144219537     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20087     Document Type: Article

References (47)

1. Aretz S, Uhlhaas S, Caspari R, Mangold E, Pagenstecher C, Propping P, Friedl W. 2004. Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. Eur J Hum Genet 12:52-58.
2. Ars E, Serra E, Garcia J, Kruyer H, Gaona A, Lazaro C, Estivill X. 2000. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet 9:237-247.
3. Aznarez I, Chan EM, Zielenski J, Blencowe BJ, Tsui LC. 2003. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet 12:2031-2040.
4. Bala S, Kraus C, Wijnen J, Meera Khan P, Ballhausen WG. 1996. Multiple products in the protein truncation test due to alternative splicing in the adenomatous polyposis coli (APC) gene. Hum Genet 98:528-533.
5. Bala S, Sulekova Z, Ballhausen WG. 1997. Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene-specific isoforms. Hum Mutat 10:201-206.
6. Bülow S. 1986. Clinical features in familial polyposis coli. Results of the Danish Polyposis Register. Dis Colon Rectum 29:102-107.
7. Caceres JF, Kornblihtt AR. 2002. Alternative splicing: multiple control mechanisms and involvement in human disease. Trends Genet 18:186-193.
8. Cartegni L, Chew SL, Krainer AR. 2002. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3:285-298.
9. Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. 2003. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 31:3568-3571.
10. Chandler J, Hohenstein P, Swing DA, Tessarollo L, Sharan SK. 2001. Human BRCA1 gene rescues the embryonic lethality of Brca1 mutant mice. Genesis 29:72-77.
11. Charames GS, Cheng H, Gilpin CA, Hunter AG, Berk T, Bapat B. 2002. A novel aberrant splice site mutation in the APC gene. J Med Genet 39:754-757.
12. Dobbie Z, Spycher M, Hurliman R, Ammann R, Ammann T, Roth J, Muller A, Muller H, Scott RJ. 1994. Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene. Eur J Cancer 30A: 1709-1713.
13. Fackenthal JD, Cartegni L, Krainer AR, Olopade OI. 2002. BRCA2 T2722R is a deleterious allele that causes exon skipping. Am J Hum Genet 71:625-631. [Erratum: Am J Hum Genet 2003;73:1477].
14. Faustino NA, Cooper TA. 2003. Pre-mRNA splicing and human disease. Genes Dev 17:419-437.
15. Ficari F, Cama A, Valanzano R, Curia MC, Palmirotta R, Aceto G, Esposito DL, Crognale S, Lombardi A, Messerini L, Mariani-Costantini R, Tonelli F, Battista P. 2000. APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis. Br J Cancer 82:348-353.
16. Frayling IM, Beck NE, Ilyas M, Dove-Edwin I, Goodman P, Pack K, Bell JA, Williams CB, Hodgson SV, Thomas HJ, Talbot IC, Bodmer WF, Tomlinson IP. 1998. The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proc Natl Acad Sci USA 95:10722-10727.
17. 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.
18. Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M, Kadmon M, Wolf M, Fahnenstich J, Gebert J, Moslem G, Mangold E, Propping P. 2001. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 48:515-521.
19. Fu XD. 1995. The superfamily of arginine/serine-rich splicing factors. RNA 1:663-680.
20. Giardiello FM, Brensinger JD, Luce MC, Petersen GM, Cayouette MC, Krush AJ, Bacon JA, Booker SV, Bufill JA, Hamilton SR. 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.
21. 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 J, 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.
22. Hofmann Y, Lorson CL, Stamm S, Androphy EJ, Wirth B. 2000. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc Natl Acad Sci USA 97:9618-9623.
23. Horii A, Nakatsuru S, Ichii S, Nagase H, Nakamura Y. 1993. Multiple forms of the APC gene transcripts and their tissue-specific expression. Hum Mol Genet 2:283-287.
24. Kashima T, Manley JL. 2003. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet 34:460-463.
25. Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D, Finniear R, Markham A, Groffen J, Boguski M, Altschul S, 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.
26. Krawczak M, Reiss J, Cooper DN. 1992. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54.
27. Ladopoulou A, Konstantopoulou I, Armaou S, Efstathiou E, Mihalatos M, Nasioulas G, Bardi G, Pandis N, Yannoukakos D. 2002. A change in the last base of BRCA1 exon 23, 5586G->A, results in abnormal RNA splicing. Hellenic Cooperative Oncology Group, Athens. Cancer Genet Cytogenet 134:175-177.
28. Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, Hamilton SR, Hampel H, Markowitz A, Klimstra D, Jhanwar S, Winawer S, Offit K, Luce MC, Kinzler KW, Vogelstein B. 1997. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 17:79-83.
29. Liu HX, Cartegni L, Zhang MQ, Krainer AR. 2001. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet 27:55-58.
30. Lorson CL, Strasswimmer J, Yao JM, Baleja JD, Hahnen E, Wirth B, Le T, Burghes AH, Androphy EJ. 1998. SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet 19:63-66.
31. Mazoyer S, Puget N, Perrin-Vidoz L, Lynch HT, Serova-Sinilnikova OM, Lenoir GM. 1998. A BRCA1 nonsense mutation causes exon skipping. Am J Hum Genet 62:713-715.
32. Montera M, Piaggio F, Marchese C, Gismondi V, Stella A, Resta N, Varesco L, Guanti G, Mareni C. 2001. A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family. J Med Genet 38:863-867.
33. 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 germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. Hum Mutat 1:467-473.
34. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P. 1991. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253:665-669.
35. Oshima M, Sugiyama H, Kitagawa K, Taketo M. 1993. APC gene messenger RNA: novel isoforms that lack exon 7. Cancer Res 53:5589-5591.
36. Schaal TD, Maniatis T. 1999. Selection and characterization of pre-mRNA splicing enhancers: identification of novel SR protein-specific enhancer sequences. Mol Cell Biol 19:1705-1719.
37. Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterud B, Lynch HT, Watson P, Lynch P, Laurent-Puig P, Burt R, Hughes J, Thomas G, Leppert M, White R. 1993. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 75:951-957.
38. Teraoka SN, Telatar M, Becker-Catania S, Liang T, Onengut S, Tolun A, Chessa L, Sanal O, Bernatowska E, Gatti RA, Concannon P. 1999. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am J Hum Genet 64:1617-1631.
39. Thliveris A, Samowitz W, Matsunami N, Groden J, White R. 1994. Demonstration of promoter activity and alternative splicing in the region 5′ to exon 1 of the APC gene. Cancer Res 54:2991-2995.
40. Valcarcel J, Green MR. 1996. The SR protein family: pleiotropic functions in pre-mRNA splicing. Trends Biochem Sci 21:296-301.
41. van der Luijt RB, Vasen HF, Tops CM, Breukel C, Fodde R, Meera 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.
42. van der Luijt RB, Meera Khan P, Vasen HF, Breukel C, Tops CM, Scott RJ, Fodde R. 1996. Germline 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.
43. van der Luijt RB, Khan PM, Vasen HF, Tops CM, van Leeuwen Cornelisse IS, Wijnen JT, van der Klift HM, Plug RJ, Griffioen G, Fodde R. 1997. Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and Southern analysis. Hum Mutat 9:7-16.
44. Varesco L, Gismondi V, Presciuttini S, Groden J, Spirio L, Sala P, Rossetti C, De Benedetti L, Bafico A, Heouaine A, Grammatico P, Del Porto G, White R, Bertario L, Ferrara G. 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.
45. Wallis YL, Morton DG, McKeown CM, Macdonald F. 1999. Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. J Med Genet 36:14-20.
46. 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.
47. Yang Y, Swaminathan S, Martin BK, Sharan SK. 2003. Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model. Hum Mol Genet 12:2121-2131.