Characterization of two APP gene promoter polymorphisms that appear to influence risk of late-onset Alzheimer's disease

Neurobiology of Aging

Volumn 26, Issue 10, 2005, Pages 1329-1341

  Lahiri, Debomoy K ^a   Ge, Yuan Wen ^a   Maloney, Bryan ^a   Wavrant De Vrièze, Fabienne ^b   Hardy, John ^b  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

Aging; Amyloid protein; Brain; CAT reporter gene; DNA protein interaction; E12 E47; E47; Gel shift assay; Polymorphism; PuF; Regulatory region; Transcription factor

Indexed keywords

ALCOHOL DEHYDROGENASE GENE REGULATOR 1; AMYLOID PRECURSOR PROTEIN; IMMUNOGLOBULIN TRANSCRIPTION FACTOR 2; MULTICOPY INHIBITOR OF GAL PROTEIN; NM23 H2 METASTATIC INHIBITORY PROTEIN; PROTEIN; REGULATORY FACTOR X2 PROTEIN; TRANSCRIPTION FACTOR E2 ALPHA; UNCLASSIFIED DRUG;

ALZHEIMER DISEASE; ARTICLE; GENE EXPRESSION; GENE FUNCTION; GENE LOSS; GENETIC POLYMORPHISM; GENETIC RISK; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DNA INTERACTION; REPORTER GENE; TRANSCRIPTION INITIATION SITE;

ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN PRECURSOR; BASE SEQUENCE; CELL LINE, TUMOR; CLONING, MOLECULAR; ELECTROPHORETIC MOBILITY SHIFT ASSAY; GENE EXPRESSION REGULATION; HUMANS; MODELS, MOLECULAR; NEUROBLASTOMA; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); REGULATORY SEQUENCES, NUCLEIC ACID; RISK;

EID: 26944436685     PISSN: 01974580     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2004.11.005     Document Type: Article

References (62)

1. Statistics about Alzheimer's disease. Alzheimer's Association. http://www.alz.org/AboutAD/statistics.asp. Accessed 30 July 2004.
2. E.S. Athan, J.H. Lee, A. Arriaga, R.P. Mayeux, and B. Tycko Polymorphisms in the promoter of the human APP gene: functional evaluation and allele frequencies in Alzheimer disease Arch Neurol 59 11 2002 1793 1799
3. S.A. Bellingham, D.K. Lahiri, B. Maloney, S. La Fontaine, G. Multhaup, and J. Camakaris Copper depletion down-regulates expression of Alzheimer's disease amyloid-beta precursor protein gene J Biol Chem 279 19 2004 20378 20386
4. F. Benedetti, A. Bernasconi, C. Lorenzi, A. Pontiggia, A. Serretti, and C. Colombo A single nucleotide polymorphism in glycogen synthase kinase 3-beta promoter gene influences onset of illness in patients affected by bipolar disorder Neurosci Lett 355 1-2 2004 37 40
5. M.M. Bradford A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding Anal Biochem 72 1976 248 254
6. R. Brandt, and J. Leschik Functional interactions of tau and their relevance for Alzheimer's disease Curr Alzheimer's Res 1 2004 255 270
7. M.J. Choi, H.J. Lee, H.J. Lee, B.J. Ham, J.H. Cha, and S.H. Ryu Association between major depressive disorder and the -1438A/G polymorphism of the serotonin 2A receptor gene Neuropsychobiology 49 1 2004 38 41
8. M. Crossley, E. Whitelaw, A. Perkins, G. Williams, Y. Fujiwara, and S.H. Orkin Isolation and characterization of the cDNA encoding BKLF/TEF-2, a major CACCC-box-binding protein in erythroid cells and selected other cells Mol Cell Biol 16 4 1996 1695 1705
9. M.J. De Vit, J.A. Waddle, and M. Johnston Regulated nuclear translocation of the Mig1 glucose repressor Mol Biol Cell 8 8 1997 1603 1618
10. L. Fidani, K. Rooke, M.C. Chartier-Harlin, D. Hughes, R. Tanzi, and M. Mullan Screening for mutations in the open reading frame and promoter of the beta-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val → Ile Hum Mol Genet 1 3 1992 165 168
11. H. Fujigasaki, S. Naruse, K. Kaneko, H. Hirasawa, S. Tsuji, and T. Miyatake Mutational analysis of the amyloid precursor protein gene in Japanese familial Alzheimer's disease kindreds Hum Genet 93 4 1994 460 462
12. Y.-W Ge, M. Ghosh, W. Song, B. Maloney, and D. Lahiri Mechanism of promoter activity of the beta-amyloid precursor protein gene in different cell types Identification of a specific 30 bp fragment in the proximal promoter region J Neurochem 90 6 2004 1432 1444
13. C. Ghosh, and D.K. Lahiri Increased vulnerability of neuronal cell lines to sodium nitroprusside-mediated toxicity is caused by the decreased level of nitric oxide metabolites J Mol Neurosci 13 1-2 1999 77 92
14. C. Ghosh, W. Song, and D.K. Lahiri Efficient DNA transfection in neuronal and astrocytic cell lines Mol Biol Rep 27 2 2000 113 121
15. A. Goate, M.C. Chartier-Harlin, M. Mullan, J. Brown, F. Crawford, and L. Fidani Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease Nature 349 6311 1991 704 706
16. J. Hardy Toward Alzheimer therapies based on genetic knowledge Annu Rev Med 55 2004 15 25
17. J. Hardy, and D.J. Selkoe The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics Science 297 5580 2002 353 356
18. M. Hattori, F. Tsukahara, Y. Furuhata, H. Tanahashi, M. Hirose, and M. Saito A novel method for making nested deletions and its application for sequencing of a 300 kb region of human APP locus Nucleic Acids Res 25 9 1997 1802 1808
19. J.I. Heng, and S.S. Tan Cloning and characterization of GRIPE, a novel interacting partner of the transcription factor E12 in developing mouse forebrain J Biol Chem 277 45 2002 43152 43159
20. C. Kakiuchi, K. Iwamoto, M. Ishiwata, M. Bundo, T. Kasahara, and I. Kusumi Impaired feedback regulation of XBP1 as a genetic risk factor for bipolar disorder Nat Genet 35 2 2003 171 175
21. K. Kamino, H.T. Orr, H. Payami, E.M. Wijsman, M.E. Alonso, and S.M. Pulst Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region Am J Hum Genet 51 5 2002 998 1014
22. D. Karan, D.L. Kelly, A. Rizzino, M.F. Lin, and S.K. Batra Expression profile of differentially-regulated genes during progression of androgen-independent growth in human prostate cancer cells Carcinogenesis 23 6 2002 967 975
23. P. Kehoe, F. Wavrant-De Vrièze, R. Crook, W.S. Wu, P. Holmans, and I. Fenton A full genome scan for late onset Alzheimer's disease Hum Mol Genet 8 2 1999 237 245
24. Kolligs FT, Nieman MT, Winer I, Hu G, Van Mater D, Feng Y, et al. ITF-2, a downstream target of the Wnt/TCF pathway, is activated in human cancers with beta-catenin defects and promotes neoplastic transformation. Cancer Cell 2002;1(2):145-55.
25. E.H. Koo, S.S. Sisodia, L.C. Cork, A. Unterbeck, R.M. Bayney, and D.L. Price Differential expression of amyloid precursor protein mRNAs in cases of Alzheimer's disease and in aged nonhuman primates Neuron 4 1 1990 97 104
26. D.M. Kovacs, W. Wasco, J. Witherby, K.M. Felsenstein, F. Brunel, and R.G. Roeder The upstream stimulatory factor functionally interacts with the Alzheimer amyloid beta-protein precursor gene Hum Mol Genet 4 9 1995 1527 1533
27. D.K. Lahiri Functional characterization of APP regulatory elements: rationale for the identification of genetic polymorphism Ann N Y Acad Sci 1030 1 2004 282 288
28. D.K. Lahiri, D. Chen, D. Vivien, Y.W. Ge, N.H. Greig, and J.T. Rogers Role of cytokines in the gene expression of amyloid beta-protein precursor: identification of a 5′-UTR-binding nuclear factor and its implications in Alzheimer's disease J Alzheimer's Dis 5 2 2003 81 90
29. D.K. Lahiri, M.R. Farlow, K. Sambamurti, N.H. Greig, E. Giacobini, and L.S. Schneider A critical analysis of new molecular targets and strategies for drug developments in Alzheimer's disease Curr Drug Targets 4 2 2003 97 112
30. D.K. Lahiri, and Y. Ge Electrophoretic mobility shift assay for the detection of specific DNA-protein complex in nuclear extracts from the cultured cells and frozen autopsy human brain tissue Brain Res Brain Res Protoc 5 3 2000 257 265
31. Lahiri DK, Ge Y-W, Maloney B. APP gene expression is modified in a cell type specific manner by domains within its proximal promoter and 5′-untranslated regions and by a specific CAGA box therein. FASEB J, in press.
32. D.K. Lahiri, C. Nall, and Y.W. Ge Promoter activity of the beta-amyloid precursor protein gene is negatively modulated by an upstream regulatory element Brain Res Mol Brain Res 71 1 1999 32 41
33. D.K. Lahiri, and N.K. Robakis The promoter activity of the gene encoding Alzheimer beta-amyloid precursor protein (APP) is regulated by two blocks of upstream sequences Brain Res Mol Brain Res 9 3 1991 253 257
34. D.K. Lahiri, K. Sambamurti, and D.A. Bennett Apolipoprotein gene and its interaction with the environmentally driven risk factors: molecular, genetic and epidemiological studies of Alzheimer's disease Neurobiol Aging 25 5 2004 651 660
35. D.K. Lahiri, W. Song, and Y.W. Ge Analysis of the 5′-flanking region of the beta-amyloid precursor protein gene that contributes to increased promoter activity in differentiated neuronal cells Brain Res Mol Brain Res 77 2 2000 185 198
36. E.J. Lehman, L.S. Kulnane, and B.T. Lamb Alterations in beta-amyloid production and deposition in brain regions of two transgenic models Neurobiol Aging 24 5 2003 645 653
37. S. Lesne, F. Docagne, C. Gabriel, G. Liot, D.K. Lahiri, and L. Buee Transforming growth factor-beta 1 potentiates amyloid-beta generation in astrocytes and in transgenic mice J Biol Chem 278 20 2003 18408 18418
38. M.B. Liddell, A.J. Bayer, and M.J. Owen No evidence that common allelic variation in the amyloid precursor protein (APP) gene confers susceptibility to Alzheimer's disease Hum Mol Genet 4 5 1995 853 858
39. B. Maloney, Y.W. Ge, N. Greig, and D.K. Lahiri Presence of a "CAGA box" in the APP gene unique to amyloid plaque-forming species and absent in all APLP-1/2 genes: implications in Alzheimer's disease FASEB J 18 11 2004 1288 1290
40. J.A. Martens, L. Laprade, and F. Winston Intergenic transcription is required to repress the Saccharomyces cerevisiae SER3 gene Nature 429 6991 2004 571 574
41. M. Michiwaka Neurodegenerative disorders and cholesterol Curr Alzheimer's Res 1 2004 271 276
42. M.I. Olson, and C.M. Shaw Presenile dementia and Alzheimer's disease in mongolism Brain 92 1 1969 147 156
43. M.R. Palmert, T.E. Golde, M.L. Cohen, D.M. Kovacs, R.E. Tanzi, and J.F. Gusella Amyloid protein precursor messenger RNAs: differential expression in Alzheimer's disease Science 241 4869 1988 1080 1084
44. S. Parrinello, C.Q. Lin, K. Murata, Y. Itahana, J. Singh, and A. Krtolica Id-1, ITF-2, and Id-2 comprise a network of helix-loop-helix proteins that regulate mammary epithelial cell proliferation, differentiation, and apoptosis J Biol Chem 276 42 2001 39213 39219
45. P. Pollwein, C.L. Masters, and K. Beyreuther The expression of the amyloid precursor protein (APP) is regulated by two GC-elements in the promoter Nucleic Acids Res 20 1 1992 63 68
46. V.P. Prasher, M.J. Farrer, A.M. Kessling, E.M. Fisher, R.J. West, and P.C. Barber Molecular mapping of Alzheimer-type dementia in Down's syndrome Ann Neurol 43 3 1998 380 383
47. K. Quandt, K. Frech, H. Karas, E. Wingender, and T. Werner MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data Nucleic Acids Res 23 23 1995 4878 4884
48. K. Rooke, C. Talbot, L. James, R. Anand, J.A. Hardy, and A.M. Goate A physical map of the human APP gene in YACs Mamm Genome 4 11 1993 662 669
49. B. Rumble, R. Retallack, C. Hilbich, G. Simms, G. Multhaup, and R. Martins Amyloid A4 protein and its precursor in Down's syndrome and Alzheimer's disease N Engl J Med 320 22 1989 1446 1452
50. D. Scheuner, C. Eckman, M. Jensen, X. Song, M. Citron, and N. Suzuki Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease Nat Med 2 8 1996 864 870
51. Schug J, Overton GC. TESS: transcription element search software on the WWW. Technical Reports of the Computational Biology and Informatics Laboratory, School of Medicine, University of Pennsylvania, Philadelphia, PA, 1998.
52. D.J. Selkoe, and M.B. Podlisny Deciphering the genetic basis of Alzheimer's disease Annu Rev Genomics Hum Genet 3 2002 67 99
53. B. Solomon Alzheimer's disease and immunotherapy Curr Alzheimer's Res 1 2004 149 163
54. W. Song, and D.K. Lahiri Molecular cloning of the promoter of the gene encoding the Rhesus monkey beta-amyloid precursor protein: structural characterization and a comparative study with other species Gene 217 1-2 1998 151 164
55. W. Song, and D.K. Lahiri Functional identification of the promoter of the gene encoding the Rhesus monkey beta-amyloid precursor protein Gene 217 1-2 1998 165 176
56. B.P. Tseng, M. Kitazawa, and F.M. LaFerla Amyloid beta-peptide: the inside story Curr Alzheimer's Res 1 2004 231 240
57. A.A. Vostrov, and W.W. Quitschke The zinc finger protein CTCF binds to the APBbeta domain of the amyloid beta-protein precursor promoter Evidence for a role in transcriptional activation J Biol Chem 272 52 1997 33353 33359
58. F. Wavrant-De Vrièze, R. Crook, P. Holmans, P. Kehoe, M.J. Owen, and J. Williams Genetic variability at the amyloid-beta precursor protein locus may contribute to the risk of late-onset Alzheimer's disease Neurosci Lett 269 2 1999 67 70
59. F. Wavrant-De Vrièze, V. Rudrasingham, D.K. Lahiri, M. Owen, and J. Hardy APP promoter variability as a risk factor for AD Abstracts from the 8th International Conference on Alzheimer's Disease and Related Disorders Stockholm, Sweden, 20-25 July 2002 Neurobiol Aging 23 Suppl 1 2002 S299
60. S.A. Wolfe, D.C. Wilkerson, S. Prado, and S.R. Grimes Regulatory factor X2 (RFX2) binds to the H1t/TE1 promoter element and activates transcription of the testis-specific histone H1t gene J Cell Biochem 91 2 2004 375 383
61. E.T. Young, K.M. Dombek, C. Tachibana, and T. Ideker Multiple pathways are co-regulated by the protein kinase Snf1 and the transcription factors Adr1 and Cat8 J Biol Chem 278 28 2003 26146 26158
62. S.H. Zaidi, R. Denman, and J.S. Malter Multiple proteins interact at a unique cis-element in the 3′-untranslated region of amyloid precursor protein mRNA J Biol Chem 269 39 1994 24000 24006