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N. Hellman, E. Grant, A. Goate (1998)
Failure to replicate a protective effect of allele 2 of NACP/α‐synuclein polymorphism in Alzheimer's disease: An association studyAnnals of Neurology, 44
M. Spillantini, M. Schmidt, V. Lee, J. Trojanowski, R. Jakes, M. Goedert (1997)
α-Synuclein in Lewy bodiesNature, 388
A. Campos-Caro, Carmen Carrasco-Serrano, L. Valor, Salvador Viniegra, J. Ballesta, M. Criado (1999)
Multiple Functional Sp1 Domains in the Minimal Promoter Region of the Neuronal Nicotinic Receptor α5 Subunit Gene*The Journal of Biological Chemistry, 274
A. West, M. Farrer, L. Petrucelli, Michael Cookson, P. Lockhart, J. Hardy (2001)
Identi®cation and characterization of the human parkin gene promoter
Yu Xia, H. Silva, B. Rosi, L. Yamaoka, J. Rimmler, M. Pericak-Vance, A. Roses, Xiaohua Chen, E. Masliah, R. DeTeresa, A. Iwai, M. Sundsmo, Ronald Thomas, C. Hofstetter, E. Gregory, L. Hansen, R. Katzman, L. Thal, T. Saitoh (1996)
Genetic studies in Alzheimer's disease with an NACP/α‐synuclein polymorphismAnnals of Neurology, 40
J. Touchman, A. Dehejia, O. Chiba-Falek, D. Cabin, Jody Schwartz, B. Orrison, M. Polymeropoulos, Robert Nussbaum (2001)
Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element.Genome research, 11 1
M. Farrer, D. Maraganore, P. Lockhart, A. Singleton, T. Lesnick, M. Andrade, A. West, R. Silva, J. Hardy, D. Hernandez (2001)
α-synuclein gene haplotypes are associated with Parkinson’s diseaseHuman Molecular Genetics, 10
S. Shimajiri, N. Arima, A. Tanimoto, Yoshitake Murata, T. Hamada, Ke-Yong Wang, Y. Sasaguri (1999)
Shortened microsatellite d(CA)21 sequence down‐regulates promoter activity of matrix metalloproteinase 9 geneFEBS Letters, 455
G. Schroth, P. Chou, P. Ho (1992)
Mapping Z-DNA in the human genome. Computer-aided mapping reveals a nonrandom distribution of potential Z-DNA-forming sequences in human genes.The Journal of biological chemistry, 267 17
H. Hamada, T. Kakunaga (1982)
Potential Z-DNA forming sequences are highly dispersed in the human genomeNature, 298
K. Uéda, H. Fukushima, E. Masliah, Yu Xia, A. Iwai, M. Yoshimoto, D. Otero, J. Kondo, Y. Ihara, T. Saitoh (1993)
Molecular cloning of cDNA encoding an unrecognized component of amyloid in Alzheimer disease.Proceedings of the National Academy of Sciences of the United States of America, 90 23
É. Mezey, A. Dehejia, G. Harta, S. Suchy, R. Nussbaum, M. Brownstein, M. Polymeropoulos (1998)
Alpha synuclein is present in Lewy bodies in sporadic Parkinson's diseaseMolecular Psychiatry, 3
Y. Izumi, H. Morino, M. Oda, H. Maruyama, F. Udaka, M. Kameyama, Sigenobu Nakamura, H. Kawakami (2001)
Genetic studies in Parkinson's disease with an α-synuclein/NACP gene polymorphism in JapanNeuroscience Letters, 300
A. Warrens, Michael Jones, R. Lechler (1997)
Splicing by overlap extension by PCR using asymmetric amplification: an improved technique for the generation of hybrid proteins of immunological interest.Gene, 186 1
G. Bai, J. Kusiak (1995)
Functional Analysis of the Proximal 5′-Flanking Region of the N-Methyl-D-aspartate Receptor Subunit Gene, NMDAR1 (*)The Journal of Biological Chemistry, 270
Alexander Rich (1994)
Speculation on the Biological Roles of Left‐Handed Z‐DNA aAnnals of the New York Academy of Sciences, 726
A. Nordheim, A. Rich (1983)
The sequence (dC-dA)n X (dG-dT)n forms left-handed Z-DNA in negatively supercoiled plasmids.Proceedings of the National Academy of Sciences of the United States of America, 80 7
E. Masliah, E. Rockenstein, I. Veinbergs, M. Mallory, M. Hashimoto, A. Takeda, Y. Sagara, A. Sisk, L. Mucke (2000)
Dopaminergic loss and inclusion body formation in alpha-synuclein mice: implications for neurodegenerative disorders.Science, 287 5456
J. Akai, A. Kimura, R. Hata (1999)
Transcriptional regulation of the human type I collagen alpha2 (COL1A2) gene by the combination of two dinucleotide repeats.Gene, 239 1
R. Krüger, W. Kuhn, T. Müller, D. Woitalla, M. Graeber, S. Kösel, H. Przuntek, J. Epplen, L. Schols, O. Riess (1998)
AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's diseaseNature Genetics, 18
D. Peters, Amin Kassam, P. Jean, H. Yonas, R. Ferrell (1999)
Functional polymorphism in the matrix metalloproteinase-9 promoter as a potential risk factor for intracranial aneurysm.Stroke, 30 12
A. Heicklen-Klein, I. Ginzburg (2000)
Tau Promoter Confers Neuronal Specificity and Binds Sp1 and AP‐2Journal of Neurochemistry, 75
R. Krüger, A. Vieira‐Saecker, W. Kuhn, D. Berg, T. Müller, N. Kühnl, G. Fuchs, A. Storch, M. Hungs, D. Woitalla, H. Przuntek, J. Epplen, L. Schöls, O. Riess (1999)
Increased susceptibility to sporadic Parkinson's disease by a certain combined α‐synuclein/apolipoprotein E genotypeAnnals of Neurology, 45
H. Hamada, M. Seidman, B. Howard, C. Gorman (1984)
Enhanced gene expression by the poly(dT-dG).poly(dC-dA) sequenceMolecular and Cellular Biology, 4
S. Searle, J. Blackwell (1999)
Evidence for a functional repeat polymorphism in the promoter of the human NRAMP1 gene that correlates with autoimmune versus infectious disease susceptibilityJournal of Medical Genetics, 36
O. Okladnova, Y. Syagailo, M. Tranitz, G. Stöber, P. Riederer, R. Mössner, K. Lesch (1998)
A promoter-associated polymorphic repeat modulates PAX-6 expression in human brain.Biochemical and biophysical research communications, 248 2
M. Feany, W. Bender (2000)
A Drosophila model of Parkinson's diseaseNature, 404
M. Polymeropoulos, C. Lavedan, E. Leroy, S. Ide, A. Dehejia, A. Dutra, B. Pike, H. Root, J. Rubenstein, R. Boyer, E. Stenroos, S. Chandrasekharappa, A. Athanassiadou, T. Papapetropoulos, W. Johnson, A. Lazzarini, R. Duvoisin, G. Iorio, L. Golbe, R. Nussbaum (1997)
Mutation in the α-Synuclein Gene Identified in Families with Parkinson's DiseaseScience, 276
E. Sadot, A. Heicklen-Klein, J. Barg, P. Lazarovici, I. Ginzburg (1996)
Identification of a tau promoter region mediating tissue-specific-regulated expression in PC12 cells.Journal of molecular biology, 256 5
E. Tan, T. Matsuura, S. Nagamitsu, M. Khajavi, J. Jankovic, T. Ashizawa (2000)
Polymorphism of NACP-Rep1 in Parkinson’s disease: An etiologic link with essential tremor?Neurology, 54
Mutations in the α-synuclein gene ( SNCA ) have been implicated in familial Parkinson’s disease (PD) while certain polymorphic alleles at a microsatellite repeat, NACP–Rep1, located ∼10 kb upstream of the gene, have been associated with sporadic PD. In order to study the regulation of the human α-synuclein gene, we performed a deletion analysis of 10.7 kb upstream of the translational start site, using the luciferase reporter assay in 293T cells and the neuroblastoma cell line SH-SY5Y. The shortest fragment, 400 bp upstream of the transcriptional start site, was sufficient for transcription in both cell lines. The other constructs led to variable expression levels, with some showing maximum expression and others showing nearly complete extinction of expression. An 880 bp fragment located ∼10 kb upstream of the gene and containing the NACP–Rep1 polymorphism, was shown to be necessary for normal expression. Additional analysis of the NACP–Rep1 locus and surrounding DNA suggested that two domains flanking the repeat interact to enhance expression while the repeat acts as a negative modulator. Next, we measured the activity of the entire 10.7 kb upstream region in the luciferase reporter assay when each of our different NACP–Rep1 alleles were present. The expression levels varied very significantly among the different alleles over a 3-fold range in the SH-SY5Y cells but showed little or no significant variation in the 293T cells. Given that even small changes in α-synuclein expression may, over many decades, predispose to PD, the association of different NACP–Rep1 alleles with PD may be a consequence of polymorphic differences in transcriptional regulation of α-synuclein expression resulting from different NACP–Rep1 alleles. Received October 15, 2001; Revised and Accepted October 26, 2001. « Previous | Next Article » Table of Contents This Article Hum. Mol. Genet. (2001) 10 (26): 3101-3109. doi: 10.1093/hmg/10.26.3101 » Abstract Free Full Text (HTML) Free Full Text (PDF) Free Classifications Report Services Article metrics Alert me when cited Alert me if corrected Find similar articles Similar articles in Web of Science Similar articles in PubMed Add to my archive Download citation Request Permissions Citing Articles Load citing article information Citing articles via CrossRef Citing articles via Scopus Citing articles via Web of Science Citing articles via Google Scholar Google Scholar Articles by Chiba-Falek, O. Articles by Nussbaum, R. L. Search for related content PubMed PubMed citation Articles by Chiba-Falek, O. Articles by Nussbaum, R. L. Related Content Load related web page information Share Email this article CiteULike Delicious Facebook Google+ Mendeley Twitter What's this? 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Human Molecular Genetics – Oxford University Press
Published: Dec 15, 2001
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