Identification of functional DNA variants in the constitutive promoter region of MDM2

Human Genomics

Volumn 6, Issue 1, 2012, Pages

  Lalonde, Marie Eve ^a   Ouimet, Manon ^a   Larivière, Mathieu ^a   Kritikou, Ekaterini A ^a   Sinnett, Daniel ^a,b  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

Functional validation; MDM2; Promoter analysis; Site directed mutagenesis; SNP

Indexed keywords

GENOMIC DNA; PROTEIN MDM2; PROTEIN P53; TRANSCRIPTION FACTOR; MDM2 PROTEIN, HUMAN; TP53 PROTEIN, HUMAN;

ARTICLE; GENE MUTATION; GENETIC TRANSFECTION; GENOTYPE; HAPLOTYPE; HELA CELL LINE; HEPATOMA CELL; HUMAN; HUMAN CELL; POLYMERASE CHAIN REACTION; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; TUMOR SUPPRESSOR GENE; ALLELE; CELL STRAIN HEPG2; COMPUTER PROGRAM; EXON; GENE EXPRESSION REGULATION; GENE LINKAGE DISEQUILIBRIUM; GENETICS; HELA CELL; INTRON; METABOLISM; REPORTER GENE; RISK FACTOR;

ALLELES; EXONS; GENE EXPRESSION REGULATION; GENES, REPORTER; HAPLOTYPES; HELA CELLS; HEP G2 CELLS; HUMANS; INTRONS; LINKAGE DISEQUILIBRIUM; MUTAGENESIS, SITE-DIRECTED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; PROTO-ONCOGENE PROTEINS C-MDM2; RISK FACTORS; SOFTWARE; TRANSFECTION; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84876552469     PISSN: 14739542     EISSN: 14797364     Source Type: Journal    
DOI: 10.1186/1479-7364-6-15     Document Type: Article

References (51)

1. Hu W, Feng Z, Ma L, Wagner J, Rice JJ, Stolovitsky G, Levine AJ: A single nucleotide polymorphism in the MDM2 gene disrupts the oscillation of p53 and MDM2 levels in cells. Cancer Res 2007, 67:2757-2765.
2. Harris SL, Levine AJ: The p53 pathway: positive and negative feedback loops. Oncogene 2005, 24:2899-2908.
3. Bennett WP, Hussain SP, Vahakangas KH, Khan MA, Shields PG, Harris CC: Molecular epidemiology of human cancer risk: gene-environment interactions and p53 mutation spectrum in human lung cancer. J Pathol 1999, 187:8-18.
4. Bond GL, Hu W, Levine AJ: MDM2 is a central node in the p53 pathway: 12 years and counting. Curr Cancer Drug Targets 2005, 5:3-8.
5. Haupt Y, Maya R, Kazaz A, Oren M: Mdm2 promotes the rapid degradation of p53. Nature 1997, 387:296-299.
6. Kubbutat MH, Jones SN, Vousden KH: Regulation of p53 stability by Mdm2. Nature 1997, 387:299-303.
7. Momand J, Zambetti GP, Olson DC, George D, Levine AJ: The mdm-2 oncogene product forms a complex with the p53 protein and inhibits p53-mediated transactivation. Cell 1992, 69:1237-1245.
8. Momand J, Jung D, Wilczynski S, Niland J: The MDM2 gene amplification database. Nucleic Acids Res 1998, 26:3453-3459.
9. Oliner JD, Kinzler KW, Meltzer PS, George DL, Vogelstein B: Amplification of a gene encoding a p53-associated protein in human sarcomas. Nature 1992, 358:80-83.
10. Meddeb M, Valent A, Danglot G, Nguyen VC, Duverger A, Fouquet F, Terrier-Lacombe MJ, Oberlin O, Bernheim A: MDM2 amplification in a primary alveolar rhabdomyosarcoma displaying a t(2;13)(q35;q14). Cytogenet Cell Genet 1996, 73:325-330.
11. Bueso-Ramos CE, Yang Y, deLeon E, McCown P, Stass SA, Albitar M: The human MDM-2 oncogene is overexpressed in leukemias. Blood 1993, 82:2617-2623.
12. Watanabe T, Hotta T, Ichikawa A, Kinoshita T, Nagai H, Uchida T, Murate T, Saito H: The MDM2 oncogene overexpression in chronic lymphocytic leukemia and low-grade lymphoma of B-cell origin. Blood 1994, 84:3158-3165.
13. Jones SN, Hancock AR, Vogel H, Donehower LA, Bradley A: Overexpression of Mdm2 in mice reveals a p53-independent role for Mdm2 in tumorigenesis. Proc Nat Acad Sci U S A 1998, 95:15608-15612.
14. Knight JC: Regulatory polymorphisms underlying complex disease traits. J Mol Med (Berlin, Germany) 2005, 83:97-109.
15. Pastinen T, Sladek R, Gurd S, Sammak A, Gel B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Brandstrom H, Beck A, Verner A, Kingsley J, Harmsen E, Labuda D, Morgan K, Vohl M-C, Naumova AK, Sinnett D, Hudson TJ: A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics 2004, 16:184-193.
16. Park JY, Park JM, Jang JS, Choi JE, Kim KM, Cha SI, Kim CH, Kang YM, Lee WK, Kam S, Park RW, Kim IS, Lee JT, Jung TH: Caspase 9 promoter polymorphisms and risk of primary lung cancer. Hum Mol Genet 2006, 15:1963-1971.
17. Harris SL, Gil G, Robins H, Hu W, Hirshfield K, Bond E, Bond G, Levine AJ: Detection of functional single-nucleotide polymorphisms that affect apoptosis. Proc Nat Acad Sci U S A 2005, 102:16297-16302.
18. Ho SY, Wang YJ, Chen HL, Chen CH, Chang CJ, Wang PJ, Chen HH, Guo HR: Increased risk of developing hepatocellular carcinoma associated with carriage of the TNF2 allele of the -308 tumor necrosis factor-alpha promoter gene. Cancer Causes Control 2004, 15:657-663.
19. Wagner K, Hemminki K, Grzybowska E, Klaes R, Burwinkel B, Bugert P, Schmutzler RK, Wappenschmidt B, Butkiewicz D, Pamula J, Pekala W, Försti A: Polymorphisms in genes involved in GH1 release and their association with breast cancer risk. Carcinogenesis 2006, 27:1867-1875.
20. Ma X, Ruan G, Wang Y, Li Q, Zhu P, Qin YZ, Li JL, Liu YR, Ma D, Zhao H: Two single-nucleotide polymorphisms with linkage disequilibrium in the human programmed cell death 5 gene 50 regulatory region affect promoter activity and the susceptibility of chronic myelogenous leukemia in Chinese population. Clin Cancer Res 2005, 11:8592-8599.
21. Moshynska O, Sankaran K, Saxena A: Molecular detection of the G(-248)A BAX promoter nucleotide change in B cell chronic lymphocytic leukaemia. Mol Pathol 2003, 56:205-209.
22. Bond GL, Hu W, Levine A: A single nucleotide polymorphism in the MDM2 gene: from a molecular and cellular explanation to clinical effect. Cancer Res 2005, 65:5481-5484.
23. Zauberman A, Flusberg D, Haupt Y, Barak Y, Oren M: A functional p53-responsive intronic promoter is contained within the human mdm2 gene. Nucleic Acids Res 1995, 23:2584-2592.
24. Ries S, Biederer C, Woods D, Shifman O, Shirasawa S, Sasazuki T, McMahon M, Oren M, McCormick F: Opposing effects of Ras on p53: transcriptional activation of mdm2 and induction of p19ARF. Cell 2000, 103:321-330.
25. Bond GL, Hirshfield KM, Kirchhoff T, Alexe G, Bond EE, Robins H, Bartel F, Taubert H, Wuerl P, Hait W, Toppmeyer D, Offit K, Levine AJ: MDM2 SNP309 accelerates tumor formation in a gender-specific and hormonedependent manner. Cancer Res 2006, 66:5104-5110.
26. Bond GL, Hu W, Bond EE, Robins H, Lutzker SG, Arva NC, Bargonetti J, Bartel F, Taubert H, Wuerl P, Onel K, Yip L, Hwang SJ, Strong LC, Lozano G, Levine AJ: A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. Cell 2004, 119:591-602.
27. Bond GL, Menin C, Bertorelle R, Alhopuro P, Aaltonen LA, Levine AJ: MDM2 SNP309 accelerates colorectal tumour formation in women. J Med Genet 2006, 43:950-952.
28. Bond GL, Levine AJ: A single nucleotide polymorphism in the p53 pathway interacts with gender, environmental stresses and tumor genetics to influence cancer in humans. Oncogene 2007, 26:1317-1323.
29. Dharel N, Kato N, Muroyama R, Moriyama M, Shao RX, Kawabe T, Omata M: MDM2 promoter SNP309 is associated with the risk of hepatocellular carcinoma in patients with chronic hepatitis C. Clin Cancer Res 2006, 12:4867-4871.
30. Ohmiya N, Taguchi A, Mabuchi N, Itoh A, Hirooka Y, Niwa Y, Goto H: MDM2 promoter polymorphism is associated with both an increased susceptibility to gastric carcinoma and poor prognosis. J Clin Oncol 2006, 24:4434-4440.
31. Wilkening S, Hemminki K, Rudnai P, Gurzau E, et al: No association between MDM2 SNP309 promoter polymorphism and basal cell carcinoma of the skin. Br J Dermatol 2007, 157:375-377.
32. Petenkaya A, Bozkurt B, Akilli-Ozturk O, Kaya HS, Gur-Dedeoglu B, Yulug IG: Lack of association between the MDM2-SNP309 polymorphism and breast cancer risk. Anticancer Res 2006, 26:4975-4977.
33. Pine SR, Mechanic LE, Bowman ED, Welsh JA, Chanock SC, Shields PG, Harris CC: MDM2 SNP309 and SNP354 are not associated with lung cancer risk. Cancer Epidemiol Biomarkers Prev 2006, 15:1559-1561.
34. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001, 29:308-311.
35. Labuda D, Krajinovic M, Richer C, Skoll A, Sinnett H, Yotova V, Sinnett D: Rapid detection of CYP1A1, CYP2D6, and NAT variants by multiplex polymerase chain reaction and allele-specific oligonucleotide assay. Anal Biochem 1999, 275:84-92.
36. Stephens M, Smith NJ, Donnelly P: A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001, 68:978-989.
37. Idelman G, Taylor JG, Tongbai R, Chen RA, Haggerty CM, Bilke S, Chanock SJ, Gardner K: Functional profiling of uncommon VCAM1 promoter polymorphisms prevalent in African American populations. Hum Mutat 2007, 28:824-829.
38. Hu Z, Jin G, Wang L, Chen F, Wang X, Shen H: MDM2 promoter polymorphism snp309 contributes to tumor susceptibility: evidence from 21 case-control studies. Cancer Epidemiol Biomarkers Prev 2007, 16:2717-2723.
39. Esteller M, Cordon-Cardo C, Corn PG, Meltzer SJ, Pohar KS, Watkins DN, Capella G, Peinado MA, Matias-Guiu X, Prat J, Baylin SB, Herman JG: p14ARF silencing by promoter hypermethylation mediates abnormal intracellular localization of MDM2. Cancer Res 2001, 61:2816-2821.
40. Sherr CJ, Weber JD: The ARF/p53 pathway. Curr Opin Genet Dev 2000, 10:94-99.
41. Dobbelstein M, Wienzek S, Konig C, Roth J: Inactivation of the p53-homologue p73 by the mdm2-oncoprotein. Oncogene 1999, 18:2101-2106.
42. Xiao ZX, Chen J, Levine AJ, Modjtahedi N, Xing J, Sellers WR, Livingston DM: Interaction between the retinoblastoma protein and the oncoprotein MDM2. Nature 1995, 375:694-698.
43. Zhang Y, Xiong Y, Yarbrough WG: ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways. Cell 1998, 92:725-734.
44. Zhang Z, Zhang R: p53-independent activities of MDM2 and their relevance to cancer therapy. Curr Cancer Drug Targets 2005, 5:9-20.
45. Dickens MP, Fitzgerald R, Fischer PM: Small-molecule inhibitors of MDM2 as new anticancer therapeutics. Semin Cancer Biol 2010, 20:10-18.
46. Brown CJ, Lain S, Verma CS, Fersht AR, Lane DP: Awakening guardian angels: drugging the p53 pathway. Nat Rev Cancer 2009, 9:862-873.
47. Barak Y, Gottlieb E, Juven-Gershon T, Oren M: Regulation of mdm2 expression by p53: alternative promoters produce transcripts with nonidentical translation potential. Genes Dev 1994, 8:1739-1749.
48. Wang M, Zhang Z, Zhu H, Fu G, Wang S, Wu D, Zhou J, Wei Q, Zhang Z: A novel functional polymorphism C1797G in the MDM2 promoter is associated with risk of bladder cancer in a Chinese population. Clin Cancer Res 2008, 14:3633-3640.
49. Arva NC, Gopen TR, Talbott KE, Campbell LE, Chicas A, White DE, Bond GL, Levine AJ, Bargonetti J: A chromatin-associated and transcriptionally inactive p53-Mdm2 complex occurs in mdm2 SNP309 homozygous cells. J Biol Chem 2005, 280:26776-26787.
50. Wilkening S, Bermejo JL, Hemminki K: MDM2 SNP309 and cancer risk: a combined analysis. Carcinogenesis 2007, 28:2262-2267.
51. Wan Y, Wu W, Yin Z, Guan P, Zhou B: MDM2 SNP309, gene-gene interaction, and tumor susceptibility: an updated meta-analysis. BMC Cancer 2011, 11:208.