Genetic regulation of α-synuclein mRNA expression in various human brain tissues

PLoS ONE

Volumn 4, Issue 10, 2009, Pages

  Linnertz, Colton ^a   Saucier, Laura ^a   Ge, Dongliang ^a   Cronin, Kenneth D ^a   Burke, James R ^a   Browndyke, Jeffrey N ^a   Hulette, Christine M ^a   Welsh Bohmer, Kathleen A ^a   Chiba Falek, Ornit ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; MESSENGER RNA;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ALLELE; ARTICLE; BRAIN REGION; BRAIN TISSUE; CADAVER; CONTROLLED STUDY; FRONTAL CORTEX; GENE EXPRESSION REGULATION; GENE NUMBER; GENETIC POLYMORPHISM; GENETIC REGULATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; PARKINSON DISEASE; PROMOTER REGION; SUBSTANTIA NIGRA; TEMPORAL CORTEX; AGED; BIOSYNTHESIS; BRAIN; FEMALE; FRONTAL LOBE; GENE FREQUENCY; MALE; MESENCEPHALON; METABOLISM; MIDDLE AGED; PONS; TEMPORAL LOBE; TISSUE DISTRIBUTION;

AGED; ALPHA-SYNUCLEIN; BRAIN; FEMALE; FRONTAL LOBE; GENE EXPRESSION REGULATION; GENE FREQUENCY; HUMANS; MALE; MESENCEPHALON; MIDDLE AGED; PONS; RNA, MESSENGER; SUBSTANTIA NIGRA; TEMPORAL LOBE; TISSUE DISTRIBUTION;

EID: 70449428150     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0007480     Document Type: Article

References (42)

1. Spillantini MG, Schmidt ML, Lee VM, Trojanowski JQ, Jakes R, et al. (1997) Alpha-synuclein in Lewy bodies. Nature 388: 839-840.
2. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, et al. (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276: 2045-2047.
3. Kruger R, Kuhn W, Muller T, Woitalla D, Graeber M, et al. (1998) Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat Genet 18: 106-108.
4. Zarranz JJ, Alegre J, Gomez-Esteban JC, Lezcano E, Ros R, et al. (2004) The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. Ann Neurol 55: 164-173.
5. Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, et al. (2003) alpha-Synuclein locus triplication causes Parkinson's disease. Science 302: 841.
6. Fuchs J, Nilsson C, Kachergus J, Munz M, Larsson EM, et al. (2007) Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. Neurology 68: 916-922.
7. Ross OA, Braithwaite AT, Skipper LM, Kachergus J, Hulihan MM, et al. (2008) Genomic investigation of alpha-synuclein multiplication and parkinsonism. Ann Neurol 63: 743-750.
8. Chartier-Harlin MC, Kachergus J, Roumier C, Mouroux V, Douay X, et al. (2004) Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364: 1167-1169.
9. Ibanez P, Bonnet AM, Debarges B, Lohmann E, Tison F, et al. (2004) Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet 364: 1169-1171.
10. Farrer M, Kachergus J, Forno L, Lincoln S, Wang DS, et al. (2004) Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. Ann Neurol 55: 174-179.
11. Miller DW, Hague SM, Clarimon J, Baptista M, Gwinn-Hardy K, et al. (2004) Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication. Neurology 62: 1835-1838.
12. Chiba-Falek O, Lopez GJ, Nussbaum RL (2006) Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients. Mov Disord 21: 1703-1708.
13. Grundemann J, Schlaudraff F, Haeckel O, Liss B (2008) Elevated alpha-synuclein mRNA levels in individual UV-laser-microdissected dopaminergic substantia nigra neurons in idiopathic Parkinson's disease. Nucleic Acids Res 36: e38.
14. Pals P, Lincoln S, Manning J, Heckman M, Skipper L, et al. (2004) alpha-Synuclein promoter confers susceptibility to Parkinson's disease. Ann Neurol 56: 591-595.
15. Mueller JC, Fuchs J, Hofer A, Zimprich A, Lichtner P, et al. (2005) Multiple regions of alpha-synuclein are associated with Parkinson's disease. Ann Neurol 57: 535-541.
16. Mizuta I, Satake W, Nakabayashi Y, Ito C, Suzuki S, et al. (2006) Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum Mol Genet 15: 1151-1158.
17. Winkler S, Hagenah J, Lincoln S, Heckman M, Haugarvoll K, et al. (2007) {alpha}-Synuclein and Parkinson disease susceptibility. Neurology.
18. Myhre R, Toft M, Kachergus J, Hulihan MM, Aasly JO, et al. (2008) Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population. Acta Neurol Scand 118: 320-327.
19. Xia Y, Rohan de Silva HA, Rosi BL, Yamaoka LH, Rimmler JB, et al. (1996) Genetic studies in Alzheimer's disease with an NACP/alpha-synuclein polymorphism. Ann Neurol 40: 207-215.
20. Touchman JW, Dehejia A, Chiba-Falek O, Cabin DE, Schwartz JR, et al. (2001) Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element. Genome Res 11: 78-86.
21. Chiba-Falek O, Touchman JW, Nussbaum RL (2003) Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene. Hum Genet 113: 426-431.
22. Chiba-Falek O, Nussbaum RL (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: 3101-3109.
23. Cronin KD, Ge D, Manninger P, Linnertz C, Rossoshek A, et al. (2009) Expansion of the Parkinson Disease-Associated SNCA-Rep1 Allele Up-Regulates Human {alpha}-Synuclein in Transgenic Mouse Brain. Hum Mol Genet.
24. Myers AJ, Gibbs JR, Webster JA, Rohrer K, Zhao A, et al. (2007) A survey of genetic human cortical gene expression. Nat Genet 39: 1494-1499.
25. Emilsson V, Thorleifsson G, Zhang B, Leonardson AS, Zink F, et al. (2008) Genetics of gene expression and its effect on disease. Nature 452: 423-428.
26. Farrer M, Maraganore DM, Lockhart P, Singleton A, Lesnick TG, et al. (2001) alpha-Synuclein gene haplotypes are associated with Parkinson's disease. Hum Mol Genet 10: 1847-1851.
27. Mizuta I, Nishimura M, Mizuta E, Yamasaki S, Ohta M, et al. (2002) Meta-analysis of alpha synuclein/NACP polymorphism in Parkinson's disease in Japan. J Neurol Neurosurg Psychiatry 73: 350.
28. Mellick GD, Maraganore DM, Silburn PA (2005) Australian data and meta-analysis lend support for alpha-synuclein (NACP-Rep1) as a risk factor for Parkinson's disease. Neurosci Lett 375: 112-116.
29. Maraganore DM, de Andrade M, Elbaz A, Farrer MJ, Ioannidis JP, et al. (2006) Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. Jama 296: 661-670.
30. Chiba-Falek O, Kowalak JA, Smulson ME, Nussbaum RL (2005) Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene. Am J Hum Genet 76: 478-492.
31. Fuchs J, Tichopad A, Golub Y, Munz M, Schweitzer KJ, et al. (2008) Genetic variability in the SNCA gene influences alpha-synuclein levels in the blood and brain. Faseb J 22: 1327-1334.
32. Beyer K (2006) Alpha-synuclein structure, posttranslational modification and alternative splicing as aggregation enhancers. Acta Neuropathol 112: 237-251.
33. Lee HJ, Choi C, Lee SJ (2002) Membrane-bound alpha-synuclein has a high aggregation propensity and the ability to seed the aggregation of the cytosolic form. J Biol Chem 277: 671-678.
34. Kingsbury AE, Daniel SE, Sangha H, Eisen S, Lees AJ, et al. (2004) Alteration in alpha-synuclein mRNA expression in Parkinson's disease. Mov Disord 19: 162-170.
35. Neystat M, Lynch T, Przedborski S, Kholodilov N, Rzhetskaya M, et al. (1999) Alpha-synuclein expression in substantia nigra and cortex in Parkinson's disease. Mov Disord 14: 417-422.
36. Dachsel JC, Lincoln SJ, Gonzalez J, Ross OA, Dickson DW, et al. (2007) The ups and downs of alpha-synuclein mRNA expression. Mov Disord 22: 293-295.
37. Braak H, Sastre M, Del Tredici K (2007) Development of alpha-synuclein immunoreactive astrocytes in the forebrain parallels stages of intraneuronal pathology in sporadic Parkinson's disease. Acta Neuropathol 114: 231-241.
38. Lewis J, Melrose H, Bumcrot D, Hope A, Zehr C, et al. (2008) In vivo silencing of alpha-synuclein using naked siRNA. Mol Neurodegener 3: 19.
39. Cullen V, Lindfors M, Ng J, Paetau A, Swinton E, et al. (2009) Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo. Mol Brain 2: 5.
40. Qiao L, Hamamichi S, Caldwell KA, Caldwell GA, Yacoubian TA, et al. (2008) Lysosomal enzyme cathepsin D protects against alpha-synuclein aggregation and toxicity. Mol Brain 1: 17.
41. Parsian A, Racette B, Zhang ZH, Chakraverty S, Rundle M, et al. (1998) Mutation, sequence analysis, and association studies of alpha-synuclein in Parkinson's disease. Neurology 51: 1757-1759.
42. Bengtsson M, Stahlberg A, Rorsman P, Kubista M (2005) Gene expression profiling in single cells from the pancreatic islets of Langerhans reveals lognormal distribution of mRNA levels. Genome Res 15: 1388-1392.