메뉴 건너뛰기




Volumn 48, Issue 10, 2009, Pages 895-902

Li-Fraumeni and Li-Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements

Author keywords

Carcinogenesis; Exonic splicing enhancers; Li Fraumeni; Methylation; Splicing

Indexed keywords

CPG OLIGODEOXYNUCLEOTIDE; PROTEIN P53; TP53 PROTEIN, HUMAN;

EID: 70349952369     PISSN: 08991987     EISSN: 10982744     Source Type: Journal    
DOI: 10.1002/mc.20537     Document Type: Article
Times cited : (14)

References (28)
  • 1
    • 33845270990 scopus 로고    scopus 로고
    • Regulating the p53 pathway: In vitro hypotheses, in vivo veritas
    • Toledo F, Wahl GM. Regulating the p53 pathway: In vitro hypotheses, in vivo veritas. Nat Rev Cancer 2006;6:909-923.
    • (2006) Nat Rev Cancer , vol.6 , pp. 909-923
    • Toledo, F.1    Wahl, G.M.2
  • 4
    • 0028953433 scopus 로고
    • Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome
    • Frebourg T, Barbier N, Yan YX, et al. Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. Am J Hum Genet 1995;56:608-615.
    • (1995) Am J Hum Genet , vol.56 , pp. 608-615
    • Frebourg, T.1    Barbier, N.2    Yan, Y.X.3
  • 8
    • 0034738970 scopus 로고    scopus 로고
    • Novel p53 splice site mutations in three families with Li-Fraumeni syndrome
    • Verselis SJ, Rheinwald JG, Fraumeni JF, Li FP. Novel p53 splice site mutations in three families with Li-Fraumeni syndrome. Oncogene 2000;19:4230-4235.
    • (2000) Oncogene , vol.19 , pp. 4230-4235
    • Verselis, S.J.1    Rheinwald, J.G.2    Fraumeni, J.F.3    Li, F.P.4
  • 10
    • 11344252796 scopus 로고    scopus 로고
    • Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations
    • DOI 10.1002/humu.20114
    • Soussi T, Kato S, Levy PP, Ishioka C. Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations. Hum Mutat 2005;25:6-17. (Pubitemid 40075908)
    • (2005) Human Mutation , vol.25 , Issue.1 , pp. 6-17
    • Soussi, T.1    Kato, S.2    Levy, P.P.3    Ishioka, C.4
  • 11
    • 34248379012 scopus 로고    scopus 로고
    • Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: Lessons from recent developments in the IARC TP53 database
    • DOI 10.1002/humu.20495
    • Petitjean A, Mathe E, Kato S, et al. Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: Lessons from recent developments in the IARC TP53 database. Hum Mutat 2007;28:622-629. (Pubitemid 46744292)
    • (2007) Human Mutation , vol.28 , Issue.6 , pp. 622-629
    • Petitjean, A.1    Mathe, E.2    Kato, S.3    Ishioka, C.4    Tavtigian, S.V.5    Hainaut, P.6    Olivier, M.7
  • 13
    • 34548757465 scopus 로고    scopus 로고
    • Mechanism of DNA-binding loss upon single-point mutation in p53
    • Special Issue - Bioinformatics: from Molecules to Systems August 2007
    • Wright JD, Lim C. Mechanism of DNA-binding loss upon single-point mutation in p53. J Biosci 2007;32:827-839. (Pubitemid 47435515)
    • (2007) Journal of Biosciences , vol.32 , Issue.5 , pp. 827-839
    • Wright, J.D.1    Lim, C.2
  • 14
    • 33746790624 scopus 로고    scopus 로고
    • Effects of common cancer mutations on stability and DNA binding of full-length p53 compared with isolated core domains
    • DOI 10.1074/jbc.M604209200
    • Ang HC, Joerger AC, Mayer S, Fersht AR. Effects of common cancer mutations on stability and DNA binding of full-length p53 compared with isolated core domains. J Biol Chem 2006;281:21934-21941. (Pubitemid 44181897)
    • (2006) Journal of Biological Chemistry , vol.281 , Issue.31 , pp. 21934-21941
    • Ang, H.C.1    Joerger, A.C.2    Mayer, S.3    Fersht, A.R.4
  • 15
    • 33747482692 scopus 로고    scopus 로고
    • Silent mutations in the gene encoding the p53 protein are preferentially located in conserved amino acid positions and splicing enhancers
    • Lamolle G, Marin M, varez-Valin F. Silent mutations in the gene encoding the p53 protein are preferentially located in conserved amino acid positions and splicing enhancers. Mutat Res 2006;600:102-112.
    • (2006) Mutat Res , vol.600 , pp. 102-112
    • Lamolle, G.1    Marin, M.2    Varez-Valin, F.3
  • 16
    • 33745931357 scopus 로고    scopus 로고
    • Methylation and repeats in silent and nonsense mutations of p53
    • Kouidou S, Malousi A, Maglaveras N. Methylation and repeats in silent and nonsense mutations of p53. Mutat Res 2006;599:167-177.
    • (2006) Mutat Res , vol.599 , pp. 167-177
    • Kouidou, S.1    Malousi, A.2    Maglaveras, N.3
  • 17
    • 0029027343 scopus 로고
    • Complete and tissue-independent methylation of CpG sites in the p53 gene: Implications for mutations in human cancers
    • Tornaletti S, Pfeifer GP. Complete and tissue-independent methylation of CpG sites in the p53 gene: Implications for mutations in human cancers. Oncogene 1995;10:1493-1499.
    • (1995) Oncogene , vol.10 , pp. 1493-1499
    • Tornaletti, S.1    Pfeifer, G.P.2
  • 18
    • 29144447632 scopus 로고    scopus 로고
    • Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2
    • Young JI, Hong EP, Castle JC, et al. Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc Natl Acad Sci USA 2005;102:17551-17558.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 17551-17558
    • Young, J.I.1    Hong, E.P.2    Castle, J.C.3
  • 19
    • 0036258111 scopus 로고    scopus 로고
    • The IARC TP53 database: New online mutation analysis and recommendations to users
    • Olivier M, Eeles R, Hollstein M, et al. The IARC TP53 database: New online mutation analysis and recommendations to users. Hum Mutat 2002;19:607-614.
    • (2002) Hum Mutat , vol.19 , pp. 607-614
    • Olivier, M.1    Eeles, R.2    Hollstein, M.3
  • 20
    • 0042242582 scopus 로고    scopus 로고
    • ESEfinder: A web resource to identify exonic splicing enhancers
    • DOI 10.1093/nar/gkg616
    • Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003;31:3568-3571. (Pubitemid 37442199)
    • (2003) Nucleic Acids Research , vol.31 , Issue.13 , pp. 3568-3571
    • Cartegni, L.1    Wang, J.2    Zhu, Z.3    Zhang, M.Q.4    Krainer, A.R.5
  • 21
    • 33747821745 scopus 로고    scopus 로고
    • RegRNA: An integrated web server for identifying regulatory RNA motifs and elements
    • Huang HY, Chien CH, Jen KH, Huang HD. RegRNA: An integrated web server for identifying regulatory RNA motifs and elements. Nucleic Acids Res 2006;34:W429-W434.
    • (2006) Nucleic Acids Res , vol.34
    • Huang, H.Y.1    Chien, C.H.2    Jen, K.H.3    Huang, H.D.4
  • 22
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
    • Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res 1987; 15:7155-7174.
    • (1987) Nucleic Acids Res , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2
  • 23
    • 33745501015 scopus 로고    scopus 로고
    • General and Specific Functions of Exonic Splicing Silencers in Splicing Control
    • DOI 10.1016/j.molcel.2006.05.018, PII S1097276506003339
    • Wang Z, Xiao X, Van NE, Burge CB. General and specific functions of exonic splicing silencers in splicing control. Mol Cell 2006;23:61-70. (Pubitemid 43963442)
    • (2006) Molecular Cell , vol.23 , Issue.1 , pp. 61-70
    • Wang, Z.1    Xiao, X.2    Van Nostrand, E.3    Burge, C.B.4
  • 24
    • 57649138720 scopus 로고    scopus 로고
    • Recent advances in p53 research: An interdisciplinary perspective
    • Olivier M, Petitjean A, Marcel V, et al. Recent advances in p53 research: An interdisciplinary perspective. Cancer Gene Ther 2009;16:1-12.
    • (2009) Cancer Gene Ther , vol.16 , pp. 1-12
    • Olivier, M.1    Petitjean, A.2    Marcel, V.3
  • 25
    • 29744446941 scopus 로고    scopus 로고
    • Meta-analysis of the p53 mutation database for mutant p53 biological activity reveals a methodologic bias in mutation detection
    • DOI 10.1158/1078-0432.CCR-05-0413
    • Soussi T, Asselain B, Hamroun D, et al. Meta-analysis of the p53 mutation database for mutant p53 biological activity reveals a methodologic bias in mutation detection. Clin Cancer Res 2006;12:62-69. (Pubitemid 43166177)
    • (2006) Clinical Cancer Research , vol.12 , Issue.1 , pp. 62-69
    • Soussi, T.1    Asselain, B.2    Hamroun, D.3    Kato, S.4    Ishioka, C.5    Claustres, M.6    Beroud, C.7
  • 26
    • 34547577319 scopus 로고    scopus 로고
    • P53 and its isoforms in cancer
    • Bourdon JC. p53 and its isoforms in cancer. Br J Cancer 2007;97:277-282.
    • (2007) Br J Cancer , vol.97 , pp. 277-282
    • Bourdon, J.C.1
  • 28
    • 39749122923 scopus 로고    scopus 로고
    • Identification of a novel, transactivation-defective splicing variant of p53 gene in patients with chronic lymphocytic leukemia
    • DOI 10.1016/j.leukres.2007.06.022, PII S0145212607002822
    • Pekova S, Cmejla R, Smolej L, et al. Identification of a novel, transactivation-defective splicing variant of p53 gene in patients with chronic lymphocytic leukemia. Leuk Res 2008; 32:395-400. (Pubitemid 351295913)
    • (2008) Leukemia Research , vol.32 , Issue.3 , pp. 395-400
    • Pekova, S.1    Cmejla, R.2    Smolej, L.3    Kozak, T.4    Spacek, M.5    Prucha, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.