BACE1 gene promoter single-nucleotide polymorphisms in alzheimer's disease

Journal of Molecular Neuroscience

Volumn 42, Issue 1, 2010, Pages 127-133

  Zhou, Weihui ^a   Cai, Fang ^a   Li, Yu ^a,b   Yang, George S ^c   O'Connor, Kathleen D ^c   Holt, Robert A ^c   Song, Weihong ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b CHONGQING MEDICAL UNIVERSITY   (China)

^c BRITISH COLUMBIA CANCER AGENCY   (Canada)

Author keywords

Alzheimer's disease; BACE1; Promoter; Single nucleotide polymorphisms

Indexed keywords

BETA SECRETASE 1;

AGED; ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; DOWN REGULATION; FEMALE; GENE EXPRESSION; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR CLONING; PATHOGENESIS; POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; AMYLOID PRECURSOR PROTEIN SECRETASES; ANIMALS; ASPARTIC ACID ENDOPEPTIDASES; CELL LINE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC;

EID: 77955173058     PISSN: 08958696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12031-010-9381-6     Document Type: Article

References (60)

1. F Acquati M Accarino C Nucci P Fumagalli L Jovine S Ottolenghi R Taramelli 2000 The gene encoding DRAP (BACE2), a glycosylated transmembrane protein of the aspartic protease family, maps to the down critical region FEBS Lett 468 59 64 10.1016/S0014-5793(00)01192-3 1:CAS:528:DC%2BD3cXhtFamtLs%3D 10683441 (Pubitemid 30101682)
2. D Blacker RE Tanzi 1998 The genetics of Alzheimer disease: current status and future prospects Arch Neurol 55 294 296 10.1001/archneur.55.3.294 1:STN:280:DyaK1c7nvVyhsQ%3D%3D 9520001 (Pubitemid 28146192)
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 SJ 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 10.1016/j.cell.2004.11.022 1:CAS:528:DC%2BD2cXhtVGls7bF 15550242 (Pubitemid 39535748)
4. XD Cai TE Golde SG Younkin 1993 Release of excess amyloid beta protein from a mutant amyloid beta protein precursor Science 259 514 516 10.1126/science.8424174 1:CAS:528:DyaK3sXhvV2itbo%3D 8424174
5. H Cai Y Wang D McCarthy H Wen DR Borchelt DL Price PC Wong 2001 BACE1 is the major beta-secretase for generation of Abeta peptides by neurons Nat Neurosci 4 233 234 10.1038/85064 1:CAS:528:DC%2BD3MXhsF2rtbc%3D 11224536 (Pubitemid 32194867)
6. L Cai G Tang L Chen B Zhang S Jiang D Ren 2005 Genetic studies of A2M and BACE1 genes in Chinese Han Alzheimer's disease patients NeuroReport 16 1023 1026 10.1097/00001756-200506210-00028 1:CAS:528:DC%2BD2MXks1Ohtr4%3D 15931081 (Pubitemid 40904759)
7. MA Christensen W Zhou H Qing A Lehman S Philipsen W Song 2004 Transcriptional regulation of BACE1, the beta-amyloid precursor protein beta-secretase, by Sp1 Mol Cell Biol 24 865 874 10.1128/MCB.24.2.865-874.2004 1:CAS:528:DC%2BD2cXktVyrsw%3D%3D 14701757 (Pubitemid 38057936)
8. M Citron T Oltersdorf C Haass L McConlogue AY Hung P Seubert C Vigo-Pelfrey I Lieberburg DJ Selkoe 1992 Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production Nature 360 672 674 10.1038/360672a0 1:CAS:528:DyaK3sXnvVGnuw%3D%3D 1465129 (Pubitemid 23007680)
9. J Clarimon J Bertranpetit F Calafell M Boada L Tarraga D Comas 2003 Association study between Alzheimer's disease and genes involved in Abeta biosynthesis, aggregation and degradation: suggestive results with BACE1 J Neurol 250 956 961 10.1007/s00415-003-1127-8 1:CAS:528:DC%2BD3sXotlelsLY%3D 12928915 (Pubitemid 37041027)
10. M Cruts B Dermaut R Rademakers G Roks M Van den Broeck G Munteanu CM van Duijn C Van Broeckhoven 2001 Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease Neurosci Lett 313 105 107 10.1016/S0304-3940(01)02234-0 1:CAS:528:DC%2BD3MXnslWrsL8%3D 11684351 (Pubitemid 32973906)
11. D De Pietri Tonelli M Mihailovich A Di Cesare F Codazzi F Grohovaz D Zacchetti 2004 Translational regulation of BACE-1 expression in neuronal and non-neuronal cells Nucleic Acids Res 32 1808 1817 10.1093/nar/gkh348 15034149 (Pubitemid 38832726)
12. B Ewing L Hillier MC Wendl P Green 1998 Base-calling of automated sequencer traces using phred. I. Accuracy assessment Genome Res 8 175 185 1:CAS:528:DyaK1cXitlWlu78%3D 9521921 (Pubitemid 28177229)
13. H Fukumoto BS Cheung BT Hyman MC Irizarry 2002 Beta-secretase protein and activity are increased in the neocortex in Alzheimer disease Arch Neurol 59 1381 1389 10.1001/archneur.59.9.1381 12223024 (Pubitemid 35014802)
14. H Fukumoto DL Rosene MB Moss S Raju BT Hyman MC Irizarry 2004 Beta-secretase activity increases with aging in human, monkey, and mouse brain Am J Pathol 164 719 725 1:CAS:528:DC%2BD2cXhsFGqtr4%3D 14742275
15. YW Ge B Maloney K Sambamurti DK Lahiri 2004 Functional characterization of the 5′ flanking region of the BACE gene: identification of a 91 bp fragment involved in basal level of BACE promoter expression FASEB J 18 1037 1039 1:CAS:528:DC%2BD2cXkslWhsr4%3D 15059977
16. G Gold JL Blouin FR Herrmann A Michon R Mulligan G Duriaux Sail C Bouras P Giannakopoulos SE Antonarakis 2003 Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers Am J Med Genet 119B 44 47 10.1002/ajmg.b.10010 12707937
17. D Gordon C Abajian P Green 1998 Consed: a graphical tool for sequence finishing Genome Res 8 195 202 1:CAS:528:DyaK1cXitlWksr0%3D 9521923
18. He W, Lu Y, Qahwash I, Hu XY, Chang A, Yan R (2004) Reticulon family members modulate BACE1 activity and amyloid-beta peptide generation. Nat Med
19. RM Holsinger CA McLean K Beyreuther CL Masters G Evin 2002 Increased expression of the amyloid precursor beta-secretase in Alzheimer's disease Ann Neurol 51 783 786 10.1002/ana.10208 1:CAS:528:DC%2BD3sXhsFygsbc%3D 12112088 (Pubitemid 34568861)
20. JT Huse D Byant Y Yang DS Pijak I D'Souza JJ Lah VM Lee RW Doms DG Cook 2003 Endoproteolysis of beta-secretase (beta-site amyloid precursor protein-cleaving enzyme) within its catalytic domain. A potential mechanism for regulation J Biol Chem 278 17141 17149 10.1074/jbc.M213303200 1:CAS:528:DC%2BD3sXjsVKmsr4%3D 12551920 (Pubitemid 36799592)
21. I Hussain D Powell DR Howlett DG Tew TD Meek C Chapman IS Gloger KE Murphy CD Southan DM Ryan TS Smith DL Simmons FS Walsh C Dingwall G Christie 1999 Identification of a novel aspartic protease (Asp 2) as beta-secretase Mol Cell Neurosci 14 419 427 10.1006/mcne.1999.0811 1:CAS:528:DyaK1MXnt1Chsrs%3D 10656250 (Pubitemid 30026585)
22. CM Kirschling H Kolsch C Frahnert ML Rao W Maier R Heun 2003 Polymorphism in the BACE gene influences the risk for Alzheimer's disease NeuroReport 14 1243 1246 10.1097/00001756-200307010-00011 1:CAS:528:DC%2BD3sXlt1Whtb4%3D 12824768 (Pubitemid 36928596)
23. S Kitazume Y Tachida R Oka K Shirotani TC Saido Y Hashimoto 2001 Alzheimer's beta-secretase, beta-site amyloid precursor protein-cleaving enzyme, is responsible for cleavage secretion of a Golgi-resident sialyltransferase Proc Natl Acad Sci U S A 98 13554 13559 10.1073/pnas.241509198 1:CAS:528:DC%2BD3MXovVyns7o%3D 11698669 (Pubitemid 33115936)
24. JC Knight 2003 Functional implications of genetic variation in non-coding DNA for disease susceptibility and gene regulation Clin Sci (Lond) 104 493 501 10.1042/CS20020304 1:CAS:528:DC%2BD3sXjtFKlsb4%3D (Pubitemid 36628145)
25. S Lammich S Schobel AK Zimmer SF Lichtenthaler C Haass 2004 Expression of the Alzheimer protease BACE1 is suppressed via its 5′-untranslated region EMBO Rep 5 620 625 10.1038/sj.embor.7400166 1:CAS:528:DC%2BD2cXksVars78%3D 15167888 (Pubitemid 39139534)
26. Q Li TC Sudhof 2004 Cleavage of amyloid-beta precursor protein and amyloid-beta precursor-like protein by BACE 1 J Biol Chem 279 10542 10550 10.1074/jbc.M310001200 1:CAS:528:DC%2BD2cXhvFChsL0%3D 14699153 (Pubitemid 38372665)
27. Y Li W Zhou Y Tong G He W Song 2006 Control of APP processing and Abeta generation level by BACE1 enzymatic activity and transcription FASEB J 20 285 292 10.1096/fj.05-4986com 16449801 (Pubitemid 44933176)
28. SF Lichtenthaler DI Dominguez GG Westmeyer K Reiss C Haass P Saftig B De Strooper B Seed 2003 The cell adhesion protein P-selectin glycoprotein ligand-1 is a substrate for the aspartyl protease BACE1 J Biol Chem 278 48713 48719 10.1074/jbc.M303861200 1:CAS:528:DC%2BD3sXptlGktLg%3D 14507929 (Pubitemid 41079512)
29. X Lin G Koelsch S Wu D Downs A Dashti J Tang 2000 Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein Proc Natl Acad Sci U S A 97 1456 1460 10.1073/pnas.97.4.1456 1:CAS:528:DC%2BD3cXhsFCrsr4%3D 10677483 (Pubitemid 30118462)
30. Y Luo B Bolon S Kahn BD Bennett S Babu-Khan P Denis W Fan H Kha J Zhang Y Gong L Martin JC Louis Q Yan WG Richards M Citron R Vassar 2001 Mice deficient in BACE1, the Alzheimer's beta-secretase, have normal phenotype and abolished beta-amyloid generation Nat Neurosci 4 231 232 10.1038/85059 1:CAS:528:DC%2BD3MXhsF2rtbY%3D 11224535 (Pubitemid 32194866)
31. H Ma S Lesne L Kotilinek JV Steidl-Nichols M Sherman L Younkin S Younkin C Forster N Sergeant A Delacourte R Vassar M Citron P Kofuji LM Boland KH Ashe 2007 Involvement of beta-site APP cleaving enzyme 1 (BACE1) in amyloid precursor protein-mediated enhancement of memory and activity-dependent synaptic plasticity PNAS 104 8167 8172 10.1073/pnas.0609521104 1:CAS:528: DC%2BD2sXmtFWnsLg%3D 17470798 (Pubitemid 47185893)
32. M Marcinkiewicz NG Seidah 2000 Coordinated expression of {beta}-amyloid precursor protein and the putative {beta}-secretase BACE and {alpha}-secretase ADAM10 in mouse and human brain J Neurochem 75 2133 2143 10.1046/j.1471-4159. 2000.0752133.x 1:CAS:528:DC%2BD3cXns1eju7k%3D 11032903
33. T Murphy A Yip C Brayne D Easton JG Evans J Xuereb N Cairns MM Esiri DC Rubinsztein 2001 The BACE gene: genomic structure and candidate gene study in late-onset Alzheimer's disease NeuroReport 12 631 634 10.1097/00001756- 200103050-00040 1:CAS:528:DC%2BD3MXitFWhtLY%3D 11234778
34. M Nicolaou YQ Song CA Sato A Orlacchio T Kawarai H Medeiros Y Liang S Sorbi E Richard EI Rogaev Y Moliaka AC Bruni R Jorge M Percy R Duara LA Farrer P St Georg-Hyslop EA Rogaeva 2001 Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease Neurogenetics 3 203 206 1:CAS:528:DC%2BD38XktV2ms7k%3D 11714100
35. P Nowotny JM Kwon S Chakraverty V Nowotny JC Morris AM Goate 2001 Association studies using novel polymorphisms in BACE1 and BACE2 NeuroReport 12 1799 1802 10.1097/00001756-200107030-00008 1:CAS:528:DC%2BD3MXltFWqu70%3D 11435901
36. A Nunomura G Perry G Aliev K Hirai A Takeda EK Balraj PK Jones H Ghanbari T Wataya S Shimohama S Chiba CS Atwood RB Petersen MA Smith 2001 Oxidative damage is the earliest event in Alzheimer disease J Neuropathol Exp Neurol 60 759 767 1:CAS:528:DC%2BD3MXmtVGmsr0%3D 11487050
37. L Pastorino AF Ikin S Lamprianou N Vacaresse JP Revelli K Platt P Paganetti PM Mathews S Harroch JD Buxbaum 2004 BACE (beta-secretase) modulates the processing of APLP2 in vivo Mol Cell Neurosci 25 642 649 10.1016/j.mcn.2003.12.013 1:CAS:528:DC%2BD2cXjtVens70%3D 15080893 (Pubitemid 38481473)
38. D Pratico 2002 Alzheimer's disease and oxygen radicals: new insights Biochem Pharmacol 63 563 567 10.1016/S0006-2952(01)00919-4 1:CAS:528: DC%2BD38Xjt1Sgsbk%3D 11992623 (Pubitemid 34457689)
39. H Qing W Zhou MA Christensen X Sun Y Tong W Song 2004 Degradation of BACE by the ubiquitin-proteasome pathway FASEB J 18 1571 1573 1:CAS:528: DC%2BD2cXotFGit7w%3D 15289451
40. SL Roberds, et al. 2001 BACE knockout mice are healthy despite lacking the primary beta-secretase activity in brain: implications for Alzheimer's disease therapeutics Hum Mol Genet 10 1317 1324 10.1093/hmg/10.12.1317 1:CAS:528:DC%2BD3MXkslSrurs%3D 11406613
41. GW Rogers Jr GM Edelman VP Mauro 2004 Differential utilization of upstream AUGs in the beta-secretase mRNA suggests that a shunting mechanism regulates translation Proc Natl Acad Sci U S A 101 2794 2799 10.1073/pnas.0308576101 1:CAS:528:DC%2BD2cXitlWhsrg%3D 14981268 (Pubitemid 38327690)
42. C Russo G Schettini TC Saido C Hulette C Lippa L Lannfelt B Ghetti P Gambetti M Tabaton JK Teller 2000 Presenilin-1 mutations in Alzheimer's disease Nature 405 531 532 10.1038/35014735 1:CAS:528:DC%2BD3cXktVChtLc%3D 10850703 (Pubitemid 30367716)
43. D Saur JM Vanderwinden B Seidler RM Schmid MH De Laet HD Allescher 2004 Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis Proc Natl Acad Sci U S A 101 1662 1667 10.1073/pnas.0305473101 1:CAS:528:DC%2BD2cXhsFaqt7Y%3D 14757827 (Pubitemid 38234211)
44. Schmechel A, Strauss M, Schlicksupp A, Pipkorn R, Haass C, Bayer TA, Multhaup G (2004) BACE forms dimers and colocalizes with APP. J Biol Chem
45. DJ Selkoe 2001 Alzheimer's disease: genes, proteins, and therapy Physiol Rev 81 741 766 1:CAS:528:DC%2BD3MXislCrsLc%3D 11274343
46. J Shi S Zhang M Tang X Liu T Li Y Wang H Han Y Guo Y Hao K Zheng X Kong Z Su Y Tong C Ma 2004 The 1239G/C polymorphism in exon 5 of BACE1 gene may be associated with sporadic Alzheimer's disease in Chinese Hans Am J Med Genet 124B 54 57 10.1002/ajmg.b.20087 14681914
47. S Sinha, et al. 1999 Purification and cloning of amyloid precursor protein beta-secretase from human brain Nature 402 537 540 10.1038/990114 1:CAS:528:DyaK1MXotFKlsrc%3D 10591214
48. X Sun Y Wang H Qing MA Christensen Y Liu W Zhou Y Tong C Xiao Y Huang S Zhang X Liu W Song 2005 Distinct transcriptional regulation and function of the human BACE2 and BACE1 genes FASEB J 19 739 749 10.1096/fj.04-3426com 1:CAS:528:DC%2BD2MXktV2rtLY%3D 15857888 (Pubitemid 40617378)
49. X Sun G He W Song 2006 BACE2, as a novel APP theta-secretase, is not responsible for the pathogenesis of Alzheimer's disease in Down syndrome FASEB J 20 1369 1376 10.1096/fj.05-5632com 1:CAS:528:DC%2BD28Xmslegsrw%3D 16816112 (Pubitemid 44943845)
50. X Sun G He H Qing W Zhou F Dobie F Cai M Staufenbiel LE Huang W Song 2006 Hypoxia facilitates Alzheimer's disease pathogenesis by up-regulating BACE1 gene expression Proc Natl Acad Sci U S A 103 18727 18732 10.1073/pnas.0606298103 1:CAS:528:DC%2BD28Xhtlaht7jJ 17121991 (Pubitemid 44913478)
51. G Tesco YH Koh EL Kang AN Cameron S Das M Sena-Esteves M Hiltunen SH Yang Z Zhong Y Shen JW Simpkins RE Tanzi 2007 Depletion of GGA3 stabilizes BACE and enhances beta-secretase activity Neuron 54 721 737 10.1016/j.neuron.2007.05.012 1:CAS:528:DC%2BD2sXntVOjtr4%3D 17553422 (Pubitemid 46843521)
52. Y Tong W Zhou V Fung MA Christensen H Qing X Sun W Song 2005 Oxidative stress potentiates BACE1 gene expression and Abeta generation J Neural Transm 112 455 469 10.1007/s00702-004-0255-3 1:CAS:528:DC%2BD2MXhsVOmtrY%3D 15614428 (Pubitemid 40868054)
53. R Vassar, et al. 1999 {Beta}-Secretase cleavage of Alzheimer's amyloid precursor protein by the transmembrane aspartic protease BACE Science 286 735 741 10.1126/science.286.5440.735 1:CAS:528:DyaK1MXntFWit74%3D 10531052 (Pubitemid 29505878)
54. CAF von Arnim A Kinoshita ID Peltan MM Tangredi L Herl BM Lee R Spoelgen TT Hshieh S Ranganathan FD Battey C-X Liu BJ Bacskai S Sever MC Irizarry DK Strickland BT Hyman 2005 The low density lipoprotein receptor-related protein (LRP) is a novel {beta}-secretase (BACE1) substrate J Biol Chem 280 17777 17785 10.1074/jbc.M414248200 (Pubitemid 41389016)
55. W Wang P Reichert BM Beyer JJ Liu J Lee L Zhang YH Liu SS Taremi HV Le C Strickland 2004 Crystallization of glycosylated human BACE protease domain expressed in Trichoplusia ni Biochim Biophys Acta 1698 255 259 1:CAS:528:DC%2BD2cXjvVemtLw%3D 15134659
56. W-X Wang BW Rajeev AJ Stromberg N Ren G Tang Q Huang I Rigoutsos PT Nelson 2008 The expression of microRNA miR-107 decreases early in Alzheimer's disease and may accelerate disease progression through regulation of {beta}-site amyloid precursor protein-cleaving enzyme 1 J Neurosci 28 1213 1223 10.1523/JNEUROSCI.5065-07.2008 18234899 (Pubitemid 351186356)
57. GG Westmeyer M Willem SF Lichtenthaler G Lurman G Multhaup I Assfalg-Machleidt K Reiss P Saftig C Haass 2004 Dimerization of beta-site beta-amyloid precursor protein-cleaving enzyme J Biol Chem 279 53205 53212 10.1074/jbc.M410378200 1:CAS:528:DC%2BD2cXhtVKqurnF 15485862 (Pubitemid 40051823)
58. R Yan MJ Bienkowski ME Shuck H Miao MC Tory AM Pauley JR Brashier NC Stratman WR Mathews AE Buhl DB Carter AG Tomasselli LA Parodi RL Heinrikson ME Gurney 1999 Membrane-anchored aspartyl protease with Alzheimer's disease beta-secretase activity Nature 402 533 537 10.1038/990107 1:CAS:528: DyaK1MXotFKmu7k%3D 10591213
59. LB Yang K Lindholm R Yan M Citron W Xia XL Yang T Beach L Sue P Wong D Price R Li Y Shen 2003 Elevated beta-secretase expression and enzymatic activity detected in sporadic Alzheimer disease Nat Med 9 3 4 10.1038/nm0103-3 1:CAS:528:DC%2BD3sXivFyk 12514700 (Pubitemid 36098241)
60. W Zhou W Song 2006 Leaky scanning and reinitiation regulate BACE1 gene expression Mol Cell Biol 26 3353 3364 10.1128/MCB.26.9.3353-3364.2006 1:CAS:528:DC%2BD28XksVKks7w%3D 16611980