Regulation of α-synuclein expression: Implications for Parkinson's disease

Cold Spring Harbor Symposia on Quantitative Biology

Volumn 68, Issue , 2003, Pages 409-415

  Chiba Falek, O ^a   Nussbaum, R L ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; ANGIOGENIN; GELATINASE B; MESSENGER RNA; MICROSATELLITE DNA; PARKIN; RIBOSOME RNA; TRANSCRIPTION FACTOR PAX6; CIS ACTING ELEMENT; DNA HELICASE; REP1 PROTEIN; TRANS ACTING FACTOR; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL MODEL; CONFERENCE PAPER; CONTROLLED STUDY; DEGENERATIVE DISEASE; DINUCLEOTIDE REPEAT; DISEASE PREDISPOSITION; ENVIRONMENTAL FACTOR; GENE; GENE LOCUS; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; HUMAN; MOUSE; NEUROLOGIC DISEASE; NONHUMAN; PARKINSON DISEASE; POPULATION GENETICS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; RAT; SNCA GENE; ARTICLE; ENHANCER REGION; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENE EXPRESSION SYSTEM; GENE FREQUENCY; GENETIC ASSOCIATION STUDY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOMICS; MICROSATELLITE INSTABILITY; REGULATOR GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION SITE;

ANIMALIA;

EID: 3242708456     PISSN: 00917451     EISSN: None     Source Type: Book Series    
DOI: 10.1101/sqb.2003.68.409     Document Type: Conference Paper

References (56)

1. Akai J., Kimura A., and Hata R.I. 1999. Transcriptional regulation of the human type I collagen alpha2 (COL1A2) gene by the combination of two dinucleotide repeats. Gene 239: 65.
2. Bonifati V., Rizzu P., van Baren M.J., Schaap O., Breedveld G.J., Krieger E., Dekker M.C., Squitieri F., Ibanez P., Joosse M., van Dongen J.W., Vanacore N., van Swieten J.C., Brice A., Meco G., van Duijn C.M., Oostra B.A., and Heutink P. 2003. Mutations in the DJ-1 gene associated with autosomal recessive early-onset Parkinsonism. Science 299: 256.
3. Borrmann L., Seebeck B., Rogalla P., and Bullerdiek J. 2003. Human HMGA2 promoter is coregulated by a polymorphic dinucleotide (TC)-repeat. Oncogene 22: 756.
4. Chiba-Falek O. and Nussbaum R.L. 2001. Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system. Hum. Mol. Genet. 10: 3101.
5. Chiba-Falek O., Touchman J.W., and Nussbaum R.L. 2003. Functional analysis of intra-allelic variation of NACP-Rep1 in the alpha-synuclein gene. Hum. Genet. 113: 426.
6. El-Agnaf O.M., Jakes R., Curran M.D., Middleton D., Ingenito R., Bianchi E., Pessi A., Neill D., and Wallace A. 1998. Aggregates from mutant and wild-type alpha-synuclein proteins and NAC peptide induce apoptotic cell death in human neuroblastoma cells by formation of beta-sheet and amyloid-like filaments. FEBS Lett. 440: 71.
7. Farrer M., Maraganore D.M., Lockhart P., Singleton A., Lesnick T.G., de Andrade M., West A., de Suva R., Hardy J., and Hernandez D. 2001. α-Synuclein gene haplotypes are associated with Parkinson's disease. Hum. Mol. Genet. 10: 1847.
8. Feany M.B. and Bender W.W. 2000. A Drosophila model of Parkinson's disease. Nature 404: 394.
9. Funayama M., Hasegawa K., Kowa H., Saito M., Tsuji S., and Obata F. 2002. A new locus for Parkinson's disease (PARKS) maps to chromosome 12p11.2-q13.1. Ann. Neural. 51: 296.
10. Gasser T., Muller-Myhsok B., Wszolek Z.K., Oehlmann R., Calne D.B., Bonifati V., Bereznai B., Fabrizio E., Vieregge P., and Horstmann R.D. 1998. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat. Genet. 18: 262.
11. Gomez-Santos C., Ferrer I., Reiriz J., Vinals F., Barrachina M., and Ambrosio S. 2002. MPP+ increases alpha-synuclein expression and ERK/MAP-kinase phosphorylation in human neuroblastoma SH-SY5Y cells. Brain Res. 935: 32.
12. Hashimoto M., Hsu L.J., Sisk A., Xia Y., Takeda A., Sundsmo M., and Masliah E. 1998. Human recombinant NACP/alpha-synuclein is aggregated and fibrillated in vitro: Relevance for Lewy body disease. Brain Res. 799: 301.
13. Hellman N.E., Grant H.A., and Goate A.M. 1998. Failure to replicate a protective effect of allele 2 of NACP/alpha-synuclein polymorphism in Alzheimer's disease: An association study. Ann. Neural. 44: 278.
14. Hoehn M.M. and Yahr M.D. 1967. Parkinsonism: Onset, progression and mortality. Neurology 17: 427.
15. Holzmann C., Kruger R., Saecker A.M., Schmitt I., Schols L., Berger K., and Riess O. 2003. Polymorphisms of the alpha-synuclein promoter: Expression analyses and association studies in Parkinson's disease. J. Neural Transm. 110: 67.
16. Hsu L.J., Sagara Y., Arroyo A., Rockenstein E., Sisk A., Mallory M., Wong J., Takenouchi T., Hashimoto M., and Masliah E. 2000. α-Synuclein promotes mitochondrial deficit and oxidative stress. Am. J. Pathol. 157: 401.
17. Ikegishi Y., Tawata M., Aida K., and Onaya T. 1999. Z-4 allele upstream of the aldose reductase gene is associated with proliferative retinopathy in Japanese patients with NIDDM, and elevated luciferase gene transcription in vitro. Life Sci. 65: 2061.
18. Izumi Y., Morino H., Oda M., Maruyama H., Udaka F., Kameyama M., Nakamura S., and Kawakami H. 2001. Genetic studies in Parkinson's disease with an alpha-synuclein/NACP gene polymorphism in Japan. Neurosci. Lett. 300: 125.
19. Khan N., Graham E., Dixon P., Morris C., Mander A., Clayton D., Vaughan J., Quinn N., Lees A., Daniel S., Wood N., and de Silva R. 2001. Parkinson's disease is not associated with the combined alpha-synuclein/apolipoprotein E susceptibility genotype. Ann. Neurol. 49: 665.
20. Kholodilov N.G., Neystat M., Oo T.F., Lo S.E., Larsen K.E., Sulzer D., and Burke R.E. 1999. Increased expression of rat synuclein in the substantia nigra pars compacta identified by mRNA differential display in a model of developmental target injury. J. Neurochem. 73: 2586.
21. Kirik D., Rosenblad C., Burger C., Lundberg C., Johansen T.E., Muzyczka N., Mandel R.J., and Bjorklund A. 2002. Parkinson-like neurodegeneration induced by targeted overexpression of alpha-synuclein in the nigrostriatal system. J. Neurosci. 22: 2780.
22. Kitada T., Asakawa S., Hattori N., Matsumine H., Yamamura Y., Minoshima S., Yokochi M., Mizuno Y., and Shimizu N. 1998. Mutations in the parkin gene cause autosomal recessive juvenile Parkinsonism. Nature 392: 605.
23. Kowall N.W., Hantraye P., Brouillet E., Beal M.F., McKee A.C., and Ferrante R.J. 2000. MPTP induces alpha-synuclein aggregation in the substantia nigra of baboons. Neuroreport 11: 211.
24. Kruger R., Kuhn W., Muller T., Woitalla D., Graeber M., Kosel S., Przuntek H., Epplen J.T., Schols L., and Riess O. 1998. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat. Genet. 18: 106.
25. Kruger R., Vieira-Saecker A.M., Kuhn W., Berg D., Muller T., Kuhnl N., Fuchs G.A., Storch A., Hungs M., Woitalla D., Przuntek H., Epplen J.T., Schols L., and Riess O. 1999. Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/apolipoprotein E genotype. Ann. Neurol. 45: 611.
26. Le W.D., Xu P., Jankovic J., Jiang H., Appel S.H., Smith R.G., and Vassilatis D.K. 2003. Mutations in NR4A2 associated with familial Parkinson disease. Nat. Genet. 33: 85.
27. Leroy E., Boyer R., Auburger G., Leube B., Ulm G., Mezey E., Harta G., Brownstein M.J., Jonnalagada S., Chernova T., Dehejia A., Lavedan C., Gasser T., Steinbach P.J., Wilkinson K.D., and Polymeropoulos M.H. 1998. The ubiquitin pathway in Parkinson's disease. Nature 395: 451.
28. Manning-Bog A.B., McCormack A.L., Li J., Uversky V.N., Fink A.L., and Di Monte D.A. 2002. The herbicide paraquat causes up-regulation and aggregation of alpha-synuclein in mice: Paraquat and alpha-synuclein. J. Biol. Chem. 277: 1641.
29. Marx F.P., Holzmann C., Strauss K.M., Li L., Eberhardt O., Gerhardt E., Cookson M.R., Hernandez D., Farrer M.J., Kachergus J., Engelender S., Ross C.A., Berger K., Schols L., Schulz J.B., Riess O., and Kruger R. 2003. Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. Hum. Mol. Genet. 12: 1223.
30. Masliah E., Rockenstein E., Veinbergs I., Mallory M., Hashimoto M., Takeda A., Sagara Y., Sisk A., and Mucke L. 2000. Dopaminergic loss and inclusion body formation in alpha-synuclein mice: Implications for neurodegenerative disorders. Science 287: 1265.
31. Mizuta I., Nishimura M., Mizuta E., Yamasaki S., Ohta M., and Kuno S. 2002. Meta-analysis of alpha synuclein/NACP polymorphism in Parkinson's disease in Japan. J. Neural. Neurosurg. Psychiatry 13: 350.
32. Okladnova O., Syagailo Y.V., Tranitz M., Stober G., Riederer P., Mossner R., and Lesch K.P. 1998. A promoter-associated polymorphic repeat modulates PAX-6 expression in human brain. Biochem. Biophys. Res. Commun. 248: 402.
33. Ostrerova N., Petrucelli L., Farrer M., Mehta N., Choi P., Hardy J., and Wolozin B. 1999. α-Synuclein shares physical and functional homology with 14-3-3 proteins. J. Neurosci. 19: 5782.
34. Parsian A., Racette B., Zhang Z.H., Chakraverty S., Rundle M., Goate A., and Perlmutter J.S. 1998. Mutation, sequence analysis, and association studies of alpha-synuclein in Parkinson's disease. Neurology 51: 1757.
35. Peters D.G., Kassam A., St. Jean P.L., Yonas H., and Ferrell R.E. 1999. Functional polymorphism in the matrix metalloproteinase-9 promoter as a potential risk factor for intracranial aneurysm. Stroke 30: 2612.
36. Pollanen M.S., Dickson D.W., and Bergeron C. 1993. Pathology and biology of the Lewy body. J. Neuropathol. Exp. Neural. 52: 183.
37. Polymeropoulos M.H., Lavedan C., Leroy E., Ide S.E., Dehejia A., Dutra A., Pike B., Root H., Rubenstein J., Boyer R., Stenroos E.S., Chandrasekharappa S., Athanassiadou A., Papapetropoulos T., Johnson W.G., Lazzarini A.M., Duvoisin R.C., Di Iorio G., Golbe L.I., and Nussbaum R.L. 1997. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276: 2045.
38. Rideout H.J., Dietrich P., Savalle M., Dauer W.T., and Stefanis L. 2003. Regulation of alpha-synuclein by bFGF in cultured ventral midbrain dopaminergic neurons. J. Neurochem. 84: 803.
39. Searle S. and Blackwell J.M. 1999. Evidence for a functional repeat polymorphism in the promoter of the human NRAMP1 gene that correlates with autoimmune versus infectious disease susceptibility. J. Med. Genet. 36: 295.
40. Shimajiri S., Arima N., Tanimoto A., Murata Y., Hamada T., Wang K.Y., and Sasaguri Y. 1999. Shortened microsatellite d(CA)21 sequence down-regulates promoter activity of matrix metalloproteinase 9 gene. FEBS Lett. 455: 70.
41. Singleton A.B., Farrer M., Johnson J., Singleton A., Hauge S., Kachergus J., Hulihan M., Peuralinna T., Dutra A., Nussbaum R., Lincoln S., Crawley A., Hanson M., Maraganore D., Adler C., Cookson M.R., Muenter M., Baptista M., Miller D., Blancato J., Hardy J., and Gwinn-Hardy K. 2003. alpha-Synuclein locus triplication causes Parkinson's disease. Science 302: 841.
42. Spillantini M.G., Schmidt M.L., Lee V.M., Trojanowski J.Q., Jakes R., and Goedert M. 1997. Alpha-synuclein in Lewy bodies. Nature 388: 839.
43. Stefanis L., Kholodilov N., Rideout H.J., Burke R.E., and Greene L.A. 2001. Synuclein-1 is selectively up-regulated in response to nerve growth factor treatment in PC12 cells. J. Neurochem. 76: 1165.
44. Tan E.K., Matsuura T., Nagamitsu S., Khajavi M., Jankovic J., and Ashizawa T. 2000. Polymorphism of NACP-Rep1 in Parkinson's disease: An etiologic link with essential tremor? Neurology 54: 1195.
45. Tan E.K., Tan C., Shen H., Chai A., Lum S.Y., Teoh M.L., Yih Y., Wong M.C., and Zhao Y. 2003. Alpha synuclein promoter and risk of Parkinson's disease: Microsatellite and allelic size variability. Neurosci. Lett. 336: 70.
46. Tanji K., Imaizumi T., Yoshida H., Mori F., Yoshimoto M., Satoh K., and Wakabayashi K. 2001. Expression of alpha-synuclein in a human glioma cell line and its up-regulation by interleukin-1beta. Neuroreport 12: 1909.
47. Tanji K., Mori F., Imaizumi T., Yoshida H., Matsumiya T., Tamo W., Yoshimoto M., Odagiri H., Sasaki M., Takahashi H., Satoh K., and Wakabayashi K. 2002. Upregulation of alpha-synuclein by lipopolysaccharide and interleukin-1 in human macrophages. Pathol. Int. 52: 572.
48. Tanner C.M. and Goldman S.M. 1996. Epidemiology of Parkinson's disease. Neural. Clin. 14: 317.
49. Touchman J.W., Dehejia A., Chiba-Falek O., Cabin D.E., Schwartz J.R., Orrison B.M., Polymeropoulos M.H., and Nussbaum R.L. 2001. Human and mouse alpha-synuclein genes: Comparative genomic sequence analysis and identification of a novel gene regulatory element. Genome Res. 11: 78.
50. Ueda K., Fukushima H., Masliah E., Xia Y., Iwai A., Yoshimoto M., Otero D.A., Kondo J., Ihara Y., and Saitoh T. 1993. Molecular cloning of cDNA encoding an unrecognized component of amyloid in Alzheimer disease. Proc. Natl. Acad. Sci. 90: 11282.
51. Valente E.M., Bentivoglio A.R., Dixon P.H., Ferraris A., Ialongo T., Frontali M., Albanese A., and Wood N.W. 2001. Localization of a novel locus for autosomal recessive early-onset Parkinsonism, PARK6, on human chromosome 1p35-p36. Am. J. Hum. Genet. 68: 895.
52. van Duijn C.M., Dekker M.C., Bonifati V., Galjaard R.J., Houwing-Duistermaat J.J., Snijders P.J., Testers L., Breedveld G.J., Horstink M., Sandkuijl L.A., van Swieten J.C., Oostra B.A., and Heutink P. 2001. Park7, a novel locus for autosomal recessive early-onset Parkinsonism, on chromosome 1p36. Am. J. Hum. Genet. 69: 629.
53. Vila M., Vukosavic S., Jackson-Lewis V., Neystat M., Jakowec M., and Przedborski S. 2000. Alpha-synuclein up-regulation in substantia nigra dopaminergic neurons following administration of the Parkinsonian toxin MPTP. J. Neurochem. 74: 721.
54. Xia Y., Rohan de Suva H.A., Rosi B.L., Yamaoka L.H., Rimmler J.B., Pericak-Vance M.A., Roses A.D., Chen X., Masliah E., DeTeresa R., Iwai A., Sundsmo M., Thomas R.G., Hofstetter C.R., Gregory E., Hansen L.A., Katzman R., Thal L.J., and Saitoh T. 1996. Genetic studies in Alzheimer's disease with an NACP/alpha-synuclein polymorphism. Ann. Neural. 40: 207.
55. Xu Z.P., Tsuji T., Riordan J.F., and Hu G.F. 2003. Identification and characterization of an angiogenin-binding DNA sequence that stimulates luciferase reporter gene expression. Biochemistry 42: 121.
56. Yamada N., Yamaya M., Okinaga S., Nakayama K., Sekizawa K., Shibahara S., and Sasaki H. 2000. Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema. Am. J. Hum. Genet. 66: 187.