Multiple sites required for expression in 5′-flanking region of the hMLH1 gene

Gene

Volumn 306, Issue 1-2, 2003, Pages 57-65

  Arita, Michitsune ^a   Zhong, Xiaoling ^a   Min, Zhenghua ^a   Hemmi, Hiromichi ^a   Shimatake, Hiroyuki ^a  

^a TOHO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

CCAAT box; Cis element; Promoter; Protein binding site

Indexed keywords

LUCIFERASE; M PROTEIN;

ARTICLE; BINDING SITE; CONTROLLED STUDY; DNA FLANKING REGION; DNA FOOTPRINTING; ELECTROPHORESIS; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSCRIPTION; HMLH1 GENE; HUMAN; HUMAN CELL; METHYLATION; PLASMID; PRIORITY JOURNAL; PROTEIN BINDING; REPORTER GENE; SEQUENCE HOMOLOGY;

5' FLANKING REGION; BASE SEQUENCE; BINDING SITES; CARRIER PROTEINS; CCAAT-BINDING FACTOR; DNA; ELECTROPHORETIC MOBILITY SHIFT ASSAY; GENE EXPRESSION; HUMANS; LUCIFERASES; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PROMOTER REGIONS (GENETICS); PROTEIN BINDING; RECOMBINANT FUSION PROTEINS; SEQUENCE DELETION; TRANSCRIPTION, GENETIC; TUMOR CELLS, CULTURED;

EID: 0037434934     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(03)00385-8     Document Type: Article

References (35)

1. Akiyama Y., Sato H., Yamada T., Nagasaki H., Tsuchiya A., Abe R., Yuasa Y. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary non-polyposis colorectal cancer kindred. Cancer Res. 57:1997;3920-3923.
2. Boland C.R., Sato J., Saito K., Carethers J.M., Marra G., Laghi L., Chauhan D.P. Genetic instability and chromosomal aberrations in colorectal cancer: a review of the current models. Cancer Detect. Prev. 22:1998;377-382.
3. Bronner C.E., Baker S.M., Morrison P.T., Warren G., Smith L.G., Lescoe M.K., Kane M., Earabino C., Lipford J., Lindblom A. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature. 368:1994;258-261.
4. Cunningham J.M., Christensen E.R., Tester D.J., Kim C.Y., Roche P.C., Burgart L.J., Thibodeau S.N. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res. 58:1998;3455-3460.
5. Deng G., Chen A., Hong J., Chae H.S., Kim Y.S. Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression. Cancer Res. 59:1999;2029-2033.
6. Dignam J.D., Lebovitz R.M., Roeder R.G. Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei. Nucleic Acids Res. 11:1983;1475-1489.
7. Drummond J.T., Li G.M., Longley M.J., Modrich P. Isolation of an hMSH2-p160 hetorodimer that restores DNA mismatch repair to tumor cells. Science. 268:1995;1909-1912.
8. Fishel R., Lescoe M.K., Rao M.R., Copeland N.G., Jenkins N.A., Garber J., Kane M., Kolodner R. The human mutator gene homolog MSH2 and its association with hereditary non-polyposis colon cancer. Cell. 75:1993;1027-1038.
9. Heinemeyer T., Wingender E., Reuter I., Hermjakob H., Kel A.E., Kel O.V., Ignatieva E.V., Ananko E.A., Podkolodnaya O.A., Kolpakov F.A., Podkolodny N.L., Kolchanov N.A. Databases on transcriptional regulation: TRANSFAC, TRRD, and COMPEL. Nucleic Acids Res. 26:1998;364-370.
10. Herman J.G., Umar A., Polyak K., Graff J.R., Ahuja N., Issa J.P., Markowitz S., Willson J.K., Hamilton S.R., Kinzler K.W., Kane M.F., Kolodner R.D., Vogelstein B., Kunkel T.A., Baylin S.B. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc. Natl. Acad. Sci. 95:1998;6870-6875.
11. Ho S.N., Hunt H.D., Pullen J.K., Pease L.R. Site-directed mutagesis by overlap extension using the polymerase chain reaction. Gene. 77:1988;51-59.
12. Ionov Y., Peinado M.A., Malkhosyan S., Shibata D., Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature. 363:1993;558-561.
13. Ito E., Yanagisawa Y., Iwahashi Y., Suzuki Y., Nagasaki H., Akiyama Y., Sugano S., Yuasa Y., Maruyama K. A core promoter and a frequent single-nucleotide polymorphism of the mismatch repair gene hMLH1. Biochem. Biophys. Res. Commun. 256:1999;488-494.
14. Kane M.F., Loda M., Gaida G.M., Lipman J., Mishra R., Goldman H., Jessup J.M., Kolodner R. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res. 57:1997;808-811.
15. Koike J., Yamada K., Takano S., Kikuchi Y., Hemmi H., Koi M., Tsujita K., Yanagita K., Yoshio T., Shimatake H. Undectable expression of hMLH1 protein in sporadic colorectal cancer with replication error phenotype. Dis. Colon Rectum. 40:1997;S23-S28.
16. Leach F.S., Nicolaides N.C., Papadopoulos N., Liu B., Jen J., Parsons R., Peltomaki P., Sistonen P., Aaltonen L.A., Nustrom-Lahti M. Mutations of a mutS homolog in hereditary non-polyposis colorectal cancer. Cell. 75:1993;1215-1225.
17. Lipkin S.M., Wang V., Jacoby R., Banerjee-Basu S., Baxevanis A.D., Lynch H.T., Elliott R.M., Collins F.S. A DNA mismtch repair gene associated with mammalian microsatellite instability. Nat. Genet. 24:2000;27-35.
18. Liu B., Nicolaides N.C., Markowitz S., Willson J.K., Parsons R.E., Jen J., Papadopolous N., Peltomaki P., de la Chapelle A., Hamilton S.R., Kinzler K.W., Vogelstein B. Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat. Genet. 9:1995;48-55.
19. Loeb L.A. Cancer cells exhibit a mutator phenotype. Adv. Cancer Res. 72:1998;25-26.
20. Mantovani R. The molecular biology of the CCAAT-binding factor NF-Y. Gene. 239:1999;15-27.
21. Miska E.A., Karlsson C., Langley E., Nielsen S.J., Pines J., Kouzarides T. HDAC4 deacetylase associates with and represses the MEF2 transcription factor. EMBO J. 18:1999;5099-5107.
22. Miyaki M., Konishi M., Tanaka K., Kikuchi-Yanoshita R., Muraoka M., Yasuno M., Igari T., Koike M., Chiba M., Mori T. Germline mutation of MSH6 as the cause of hereditary non-polyposis colorectal cancer. Nat. Genet. 17:1997;271-272.
23. Moslein G., Tester D.J., Lindor N.M., Honchel R., Cunningham J.M., French A.J., Halling K.C., Schwab M., Goretzki P., Thibodeau S.N. Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. Hum. Mol. Genet. 5:1996;1245-1252.
24. Mueller P.R., Garrity P.A., Wold B. Ligation-mediated PCR for genomic sequencing and footprinting. Ausubel F.M., Brent R., Kingston R.E., Moore D.D., Seidman J.G., Smith J.A., Struhl K. Current Protocols in Molecular Biology. 2 (Suppl. 20):1992;15.5.1-15.5.26 John Wiley & Sons, Inc, New York, NY.
25. Nicolaides N.C., Papadopoulos N., Liu B., Wei Y.F., Carter K.C., Ruben S.M., Rosen C.A., Haseltine W.A., Fleischmann R.D., Fraser C.M. Mutation of two PMS homologues in hereditary non-polyposis colon cancer. Nature. 371:1994;75-80.
26. Palombo F., Gallinari P., Iaccarino I., Lettieri T., Hughes M., D'Arrigo A., Truong O., Hsuan J.J., Jiricny J. GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science. 268:1995;1912-1914.
27. Papadopoulos N., Nicolaides N.C., Wei Y.F., Ruben S.M., Carter K.C., Rosen C.A., Haseltine W.A., Fleischmann R.D., Fraser C.M., Adams M.D. Mutation of a mutL homolog in hereditary colon cancer. Science. 263:1994;1625-1629.
28. Peltomaki P., Vasen H.F. Mutations predisposing to hereditary non-polyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Non-polyposis Colorectal Cancer. Gastroenterology. 113:1997;1146-1158.
29. Quaresima B., Faniello M.C., Baudi F., Cuda G., Grandinetti C., Tassone P., Costanzo F., Venuta S. Transcriptional regulation of the mismatch repair gene hMLH1. Gene. 275:2001;261-265.
30. Shibata D., Peinado M.A., Ionov Y., Malkhosyan S., Perucho M. Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation. Nat. Genet. 6:1994;273-281.
31. Thibodeau S.N., Bren G., Schaid D. Microsatellite instability in cancer of the proximal colon. Science. 260:1993;816-819.
32. Veigl M.L., Kasturi L., Olechnowicz J., Ma A.H., Lutterbaugh J.D., Periyasamy S., Li G.M., Drummond J., Modrich P.L., Sedwick W.D., Markowitz S.D. Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. Proc. Natl. Acad. Sci. 95:1998;8698-8702.
33. Watanabe A., Ikejima M., Suzuki N., Shimada T. Genomic organization and expression of the human MSH3 gene. Genomics. 31:1996;311-318.
34. waf1 promoter activity induced by histone deacetylase inhibitor in NIH3T3 cells. J. Cell Biochem. 73:1999;291-302.
35. Zhong X., Arita M., Koike J., Tsujita K., Hemmi H. A single nucleotide polymorphism in the promoter region of the hMLH1 gene: effect on transcriptional activity and application as a marker for detecting allelic loss. J. Med. Soc. Toho Univ. 48:2001;114-124.