Polymorphisms in promoter sequences of the p15 INK4B and PTEN genes of normal Japanese individuals

Biochemical Genetics

Volumn 48, Issue 11-12, 2010, Pages 970-986

  Ohsaka, Yasuhito ^b   Yogosawa, Shingo ^b   Nakanishi, Ryoko ^b   Sakai, Toshiyuki ^b   Nishino, Hoyoku ^a,b  

^a RITSUMEIKAN UNIVERSITY   (Japan)

^b KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

Author keywords

Normal individuals; P15INK4B; Promoter polymorphism; PTEN; Transcription

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2B; GENOMIC DNA; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ARTICLE; CONTROLLED STUDY; DNA ISOLATION; GENE ACTIVITY; GENE INSERTION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; JAPANESE; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PROMOTER REGION; REPORTER GENE; SEQUENCE ANALYSIS; TRANSCRIPTION REGULATION;

BASE SEQUENCE; CELL LINE, TRANSFORMED; CYCLIN-DEPENDENT KINASE INHIBITOR P15; DNA; GENE EXPRESSION REGULATION; GENES, REPORTER; HUMANS; JAPAN; LUCIFERASES; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, GENETIC; PROMOTER REGIONS, GENETIC; PTEN PHOSPHOHYDROLASE; TRANSCRIPTION FACTORS;

EID: 78649289399     PISSN: 00062928     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10528-010-9379-3     Document Type: Article

References (51)

1. S Agrawal M Unterberg S Koschmieder U zur Stadt U Brunnberg W Verbeek T Büchner WE Berdel H Serve C Müller-Tidow 2007 DNA methylation of tumor suppressor genes in clinical remission predicts the relapse risk in acute myeloid leukemia Cancer Res 67 1370 1377 1:CAS:528:DC%2BD2sXht1ynt70%3D 10.1158/0008-5472.CAN-06-1681 17283175
2. M Aoki R Morishita H Matsushita N Nakano S Hayashi N Tomita K Yamamoto A Moriguchi J Higaki T Ogihara 1997 Serum deprivation-induced apoptosis accompanied by up-regulation of p53 and bax in human aortic vascular smooth muscle cells Heart Vessels Suppl 12 71 75
3. GL Bond W Hu EE Bond H Robins SG Lutzker NC Arva J Bargonetti F Bartel H Taubert P Wuerl K Onel L Yip S-J Hwang LC Strong G Lozano AJ Levine 2004 A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans Cell 119 591 602 1:CAS:528:DC%2BD2cXhtVGls7bF 10.1016/j.cell.2004.11.022 15550242 (Pubitemid 39535748)
4. AJ Brookes 1999 The essence of SNPs Gene 234 177 186 1:CAS:528: DyaK1MXks1Cqsbs%3D 10.1016/S0378-1119(99)00219-X 10395891 (Pubitemid 29298180)
5. Cancer Genome Atlas Research Network (2008) Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 455:1061-1068. Available at: http://cancergenome.nih.gov/dataportal/data/about/, accessed February 17, 2010
6. F-H Chang D-S Tzeng T-M Lee T-C Chen L-S Hsu F-W Lung 2003 Mutations in the p53 tumor suppressor gene in colorectal cancer in Taiwan Kaohsiung J Med Sci 19 151 158 1:CAS:528:DC%2BD3sXkvFCjtL0%3D 10.1016/S1607-551X(09)70464-4 12795343
7. T-W Chung Y-C Lee J-H Ko C-H Kim 2003 Hepatitis B Virus X protein modulates the expression of PTEN by inhibiting the function of p53, a transcriptional activator in liver cells Cancer Res 63 3453 3458 1:CAS:528:DC%2BD3sXltVGrtL4%3D 12839924
8. J Cline JC Braman HH Hogrefe 1996 PCR fidelity of Pfu DNA polymerase and other thermostable DNA polymerases Nucleic Acids Res 24 3546 3551 1:CAS:528:DyaK28Xmt1ajtb8%3D 10.1093/nar/24.18.3546 8836181
9. N Dharel N Kato R Muroyama M Moriyama R-X Shao T Kawabe M Omata 2006 MDM2 promoter SNP309 is associated with the risk of hepatocellular carcinoma in patients with chronic hepatitis C Clin Cancer Res 12 4867 4871 1:CAS:528:DC%2BD28XotFKgtr4%3D 10.1158/1078-0432.CCR-06-0111 16914573 (Pubitemid 44338572)
10. M Eguchi-Ishimae M Eguchi E Ishii D Knight Y Sadakane K Isoyama H Yabe S Mizutani M Greaves 2005 The association of a distinctive allele of NAD(P)H:quinone oxidoreductase with pediatric acute lymphoblastic leukemias with MLL fusion genes in Japan Haematologica 90 1511 1515 1:CAS:528: DC%2BD2MXht12qtLrO 16266898
11. O El-Maarri MS Kareta T Mikeska T Becker A Diaz-Lacava J Junen N Nüsgen F Behne T Wienker A Waha J Oldenburg F Chédin 2009 A systematic search for DNA methyltransferase polymorphisms reveals a rare DNMT3L variant associated with subtelomeric hypomethylation Hum Mol Genet 18 1755 1768 1:CAS:528:DC%2BD1MXltV2gsLw%3D 10.1093/hmg/ddp088 19246518
12. G Fan L Hutnick 2005 Methyl-CpG binding proteins in the nervous system Cell Research 15 255 261 1:CAS:528:DC%2BD2MXhtFWntrzM 10.1038/sj.cr.7290294 15857580 (Pubitemid 41642881)
13. INK4B transcription in response to TGF-β EMBO J 19 5178 5193 1:CAS:528:DC%2BD3cXnvF2qtLg%3D 10.1093/emboj/19.19.5178 11013220
14. INK4B is a potential effector of TGF-β-induced cell cycle arrest Nature 371 257 261 1:CAS:528: DyaK2cXmsVOqsbk%3D 10.1038/371257a0 8078588
15. INK4b in HDAC inhibitor-induced growth arrest FEBS Lett 554 347 350 1:CAS:528:DC%2BD3sXovVentrc%3D 10.1016/S0014-5793(03)01186-4 14623092 (Pubitemid 37412512)
16. Y Hong X Miao X Zhang F Ding A Luo Y Guo W Tan Z Liu D Lin 2005 The role of P53 and MDM2 polymorphisms in the risk of esophageal squamous cell carcinoma Cancer Res 65 9582 9587 1:CAS:528:DC%2BD2MXhtFWmu7vP 10.1158/0008-5472.CAN-05- 1460 16230424 (Pubitemid 41508029)
17. International HapMap Consortium 2005 A haplotype map of the human genome Nature 437 1299 1320 10.1038/nature04226 (Pubitemid 41568671)
18. H Ishihara T Sasaoka S Kagawa S Murakami K Fukui Y Kawagishi K Yamazaki A Sato M Iwata M Urakaze M Ishiki T Wada S Yaguchi H Tsuneki I Kimura M Kobayashi 2003 Association of the polymorphisms in the 5′-untranslated region of PTEN gene with type 2 diabetes in a Japanese population FEBS Lett 554 450 454 1:CAS:528:DC%2BD3sXovVentLk%3D 10.1016/S0014-5793(03)01225-0 14623110 (Pubitemid 37412530)
19. 3-adrenergic receptor gene is associated with obesity and hyperinsulinemia in Japanese subjects Biochem Biophys Res Commun 215 555 560 1:CAS:528:DyaK2MXos1KnsLk%3D 10.1006/bbrc.1995. 2500 7487991
20. M-J Kang B-J Park D-S Byun J-I Park H-J Kim J-H Park S-G Chi 2000 Loss of imprinting and elevated expression of wild-type p73 in human gastric adenocarcinoma Clin Cancer Res 6 1767 1771 1:CAS:528:DC%2BD3cXktVWis7w%3D 10815895
21. K Kawaguchi Y Oda T Saito T Takahira H Yamamoto S Tamiya Y Iwamoto M Tsuneyoshi 2005 Genetic and epigenetic alterations of the PTEN gene in soft tissue sarcomas Hum Pathol 36 357 363 1:CAS:528:DC%2BD2MXjsFGqs7c%3D 10.1016/j.humpath.2005.01.017 15891996 (Pubitemid 40591805)
22. D-M Li H Sun 1997 TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor β Cancer Res 57 2124 2129 1:CAS:528:DyaK2sXjslGisrs%3D 9187108
23. INK4B through an Sp1 consensus site J Biol Chem 270 26750 26753 1:CAS:528:DyaK2MXpsVGmurc%3D 10.1074/jbc.270.45.26750 7592908
24. J Li C Yen D Liaw K Podsypanina S Bose SI Wang J Puc C Miliaresis L Rodgers R McCombie SH Bigner BC Giovanella M Ittmann B Tycko H Hibshoosh MH Wigler R Parsons 1997 PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer Science 275 1943 1947 1:CAS:528:DyaK2sXit1Wgtbk%3D 10.1126/science.275.5308.1943 9072974 (Pubitemid 27148818)
25. M Lokshin Y Li C Gaiddon C Prives 2007 p53 and p73 display common and distinct requirements for sequence specific binding to DNA Nucleic Acids Res 35 340 352 1:CAS:528:DC%2BD2sXhtVyitrg%3D 10.1093/nar/gkl1047 17170001 (Pubitemid 46189858)
26. T Maehama JE Dixon 1998 The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate J Biol Chem 273 13375 13378 1:CAS:528:DyaK1cXjvVejsLk%3D 10.1074/jbc.273.22.13375 9593664 (Pubitemid 28268370)
27. RC Millikan K Heard S Winkel EJ Hill K Heard B Massa L Mayes P Williams R Holston K Conway S Edmiston AR de Cotret 2006 No association between the MDM2-309T/G promoter polymorphism and breast cancer in African-Americans or Whites Cancer Epidemiol Biomarkers Prev 15 175 177 1:CAS:528: DC%2BD28XmvVSnsQ%3D%3D 10.1158/1055-9965.EPI-05-0692 16434608
28. T Minaguchi Y Kanamori M Matsushima H Yoshikawa Y Taketani Y Nakamura 1998 No evidence of correlation between polymorphism at codon 72 of p53 and risk of cervical cancer in Japanese patients with human papillomavirus 16/18 infection Cancer Res 58 4585 4586 1:CAS:528:DyaK1cXmslWrs7k%3D 9788606
29. MP Myers JP Stolarov C Eng J Li SI Wang MH Wigler R Parsons NK Tonks 1997 P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase Proc Natl Acad Sci USA 94 9052 9057 1:CAS:528:DyaK2sXls1Kmurg%3D 10.1073/pnas.94.17.9052 9256433 (Pubitemid 27357780)
30. T Namiki A Sakashita H Kobayashi N Maseki T Izumo Y Komada S Koizumi T Shikano A Kikuta A Watanabe J Suzumiya M Kikuchi Y Kaneko 2003 Clinical and genetic characteristics of Japanese Burkitt lymphomas with or without leukemic presentation Int J Hematol 77 490 498 1:CAS:528:DC%2BD3sXls1Gmtr0%3D 10.1007/BF02986618 12841388
31. T Ohnishi X Wang K Ohnishi A Takahashi 1998 p53-dependent induction of WAF1 by cold shock in human glioblastoma cells Oncogene 16 1507 1511 1:CAS:528:DyaK1cXit1Cjt7o%3D 10.1038/sj.onc.1201663 9525749 (Pubitemid 28151858)
32. INK4B induction and growth inhibition in astrocytes is SMAD3-dependent and a pathway prominently altered in human glioma cell lines J Biol Chem 274 35053 35058 1:CAS:528:DyaK1MXnvFyrtL0%3D 10.1074/jbc.274.49.35053 10574984
33. K Sakashita K Koike T Kinoshita M Shiohara T Kamijo S Taniguchi T Kubota 2001 Dynamic DNA methylation change in the CpG island region of p15 during human myeloid development J Clin Invest 108 1195 1204 1:CAS:528:DC%2BD3MXns1ChsL0%3D 11602627
34. INK4b Nat Cell Biol 3 400 408 1:CAS:528:DC%2BD3MXivVygt74%3D 10.1038/35070086 11283614 (Pubitemid 32288448)
35. X Sheng D Koul J-L Liu T-J Liu WKA Yung 2002 Promoter analysis of tumor suppressor gene PTEN: identification of minimum promoter region Biochem Biophys Res Commun 292 422 426 1:CAS:528:DC%2BD38XitFeitrk%3D 10.1006/bbrc.2002.6662 11906179 (Pubitemid 34694281)
36. P Siedlecki P Zielenkiewicz 2006 Mammalian DNA methyltransferases Acta Biochim Pol 53 245 256 1:CAS:528:DC%2BD28XhtVCgtLnF 16582985
37. V Stambolic D MacPherson D Sas Y Lin B Snow Y Jang S Benchimol TW Mak 2001 Regulation of PTEN transcription by p53 Mol Cell 8 317 325 1:CAS:528:DC%2BD3MXmvFWgsbY%3D 10.1016/S1097-2765(01)00323-9 11545734 (Pubitemid 32831549)
38. PA Steck MA Pershouse SA Jasser WKA Yung H Lin AH Ligon LA Langford ML Baumgard T Hattier T Davis C Frye R Hu B Swedlund DHR Teng SV Tavtigian 1997 Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers Nat Genet 15 356 362 1:CAS:528:DyaK2sXitF2hs70%3D 10.1038/ng0497-356 9090379 (Pubitemid 27147102)
39. M Takagi M Nishioka H Kakihara M Kitabayashi H Inoue B Kawakami M Oka T Imanaka 1997 Characterization of DNA polymerase from Pyrococcus sp. strain KOD1 and its application to PCR Appl Environ Microbiol 63 4504 4510 1:CAS:528:DyaK2sXnt12ntb0%3D 9361436
40. M Tan J Bian K Guan Y Sun 2001 p53CP is p51/p63, the third member of the p53 gene family: partial purification and characterization Carcinogenesis 22 295 300 10.1093/carcin/22.2.295 11181451
41. RE Teresi SM Planchon KA Waite C Eng 2008 Regulation of the PTEN promoter by statins and SREBP Hum Mol Genet 17 919 928 1:CAS:528:DC%2BD1cXjs1Whsro%3D 10.1093/hmg/ddm364 18065496 (Pubitemid 351426026)
42. T Virolle ED Adamson V Baron D Birle D Mercola T Mustelin I de Belle 2001 The Egr-1 transcription factor directly activates PTEN during irradiation-induced signalling Nat Cell Biol 3 1124 1128 1:CAS:528: DC%2BD3MXpt1Gnsrw%3D 10.1038/ncb1201-1124 11781575 (Pubitemid 33130464)
43. JT Whelan SL Forbes FE Bertrand 2007 CBF-1 (RBP-Jκ) binds to the PTEN promoter and regulates PTEN gene expression Cell Cycle 6 80 84 1:CAS:528:DC%2BD2sXnvFygtr0%3D 17245125
44. E Wingender X Chen R Hehl H Karas I Liebich V Matys T Meinhardt M Prü I Reuter F Schacherer 2000 TRANSFAC: an integrated system for gene expression regulation Nucleic Acids Res 28 316 319 1:CAS:528: DC%2BD3cXhvVKjtbg%3D 10.1093/nar/28.1.316 10592259
45. W-J Wu Y Kakehi T Habuchi H Kinoshita O Ogawa T Terachi C-H Huang C-P Chiang O Yoshida 1995 Allelic frequency of p53 gene codon 72 polymorphism in urologic cancers Jpn J Cancer Res 86 730 736 1:CAS:528:DyaK2MXot1Sis7g%3D 7559095
46. INK4B gene is possibly associated with parvovirus B19 V infection in adult acute leukemias Int J Lab Hem 31 407 419 1:STN:280:DC%2BD1MvmtVagtg%3D%3D 10.1111/j.1751-553X.2008.01052.x
47. M Yang Y Guo X Zhang X Miao W Tan T Sun D Zhao D Yu J Liu D Lin 2007 Interaction of P53 Arg72Pro and MDM2 T309G polymorphisms and their associations with risk of gastric cardia cancer Carcinogenesis 28 1996 2001 10.1093/carcin/bgm168 17638920 (Pubitemid 47500614)
48. M Yokota S Ichihara T-L Lin N Nakashima Y Yamada 2000 Association of a T29→C polymorphism of the transforming growth factor-β1 gene with genetic susceptibility to myocardial infarction in Japanese Circulation 101 2783 2787 1:CAS:528:DC%2BD3cXksVCgtbk%3D 10859282
49. X Zeng Y Zhu H Lu 2001 NBP is the p53 homolog p63 Carcinogenesis 22 215 219 1:CAS:528:DC%2BD3MXhslGku7Y%3D 10.1093/carcin/22.2.215 11181441
50. W Zhang X-Y Guo G-Y Hu W-B Liu JW Shay AB Deisseroth 1994 A temperature-sensitive mutant of human p53 EMBO J 13 2535 2544 1:CAS:528:DyaK2cXltVWju7c%3D 8013454
51. X-P Zhou KA Waite R Pilarski H Hampel MJ Fernandez C Bos M Dasouki GL Feldman LA Greenberg J Ivanovich E Matloff A Patterson ME Pierpont D Russo NT Nassif C Eng 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway Am J Hum Genet 73 404 411 1:CAS:528:DC%2BD3sXmt1Snurg%3D 10.1086/377109 12844284 (Pubitemid 36921003)