Genetic association study of synphilin-1 in idiopathic Parkinson's disease

BMC Medical Genetics

Volumn 9, Issue , 2008, Pages

  Myhre, Ronny ^a   Klungland, Helge ^a   Farrer, Matthew J ^b   Aasly, Jan O ^c  

^a NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^b MAYO CLINIC   (United States)

^c TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALPHA SYNUCLEIN; ARGININE; CYSTEINE; GLUTAMIC ACID; GLUTAMINE; LEUCINE; PROLINE; SYNPHILIN 1; VALINE; CARRIER PROTEIN; MICROSATELLITE DNA; NERVE PROTEIN; SNCAIP PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 5P; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IDIOPATHIC DISEASE; INTRON; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; PARKINSON DISEASE; PATHOGENESIS; RISK; SINGLE NUCLEOTIDE POLYMORPHISM; TELOMERE; CASE CONTROL STUDY; CHROMOSOME 5; GENETIC PREDISPOSITION; GENETICS; LONGITUDINAL STUDY; MIDDLE AGED; MUTATION;

AGED; AGED, 80 AND OVER; CARRIER PROTEINS; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 5; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LONGITUDINAL STUDIES; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; VARIATION (GENETICS);

EID: 42449155554     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-9-19     Document Type: Article

References (30)

1. Spillantini MG Schmidt ML Lee VM Trojanowski JQ Jakes R Goedert M Alpha-synuclein in Lewy bodies Nature 1997, 388:6645-839 840 10.1038/ 42166 9278044
2. Spillantini MG Crowther RA Jakes R Hasegawa M Goedert M alpha-Synuclein in filamentous inclusions of Lewy bodies from Parkinson's disease and dementia with lewy bodies Proc Natl Acad Sci USA 1998 95 11 6469 6473 27806 9600990 10.1073/pnas.95.11.6469
3. Spillantini MG Crowther RA Jakes R Cairns NJ Lantos PL Goedert M Filamentous alpha-synuclein inclusions link multiple system atrophy with Parkinson's disease and dementia with Lewy bodies Neurosci Lett 1998, 251(3):205-208 10.1016/S0304-3940(98)00504-7 9726379
4. Tu PH Galvin JE Baba M Giasson B Tomita T Leight S Nakajo S Iwatsubo T Trojanowski JQ Lee VM Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble alpha-synuclein Ann Neurol 1998, 44(3):415-422 10.1002/ana.410440324 9749615
5. Engelender S Kaminsky Z Guo X Sharp AH Amaravi RK Kleiderlein JJ Margolis RL Troncoso JC Lanahan AA Worley PF Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions Nat Genet 1999, 22(1):110-114 10.1038/8820 10319874
6. Wakabayashi K Engelender S Tanaka Y Yoshimoto M Mori F Tsuji S Ross CA Takahashi H Immunocytochemical localization of synphilin-1, an alpha-synuclein-associated protein, in neurodegenerative disorders Acta Neuropathol (Berl) 2002, 103(3):209-214 10.1007/s004010100451
7. Wakabayashi K Engelender S Yoshimoto M Tsuji S Ross CA Takahashi H Synphilin-1 is present in Lewy bodies in Parkinson's disease Ann Neurol 2000, 47(4):521-523 10.1002/ 1531-8249(200004)47:4<521::AID-ANA18<3.0.CO;2-B 10762166
8. Ribeiro CS Carneiro K Ross CA Menezes JR Engelender S Synphilin-1 is developmentally localized to synaptic terminals, and its association with synaptic vesicles is modulated by alpha-synuclein J Biol Chem 2002, 277(26):23927-23933 10.1074/jbc.M201115200 11956199
9. Chung KK Zhang Y Lim KL Tanaka Y Huang H Gao J Ross CA Dawson VL Dawson TM Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: Implications for Lewy-body formation in Parkinson disease Nat Med 2001, 7(10):1144-1150 10.1038/nm1001-1144 11590439
10. Engelender S Wanner T Kleiderlein JJ Wakabayashi K Tsuji S Takahashi H Ashworth R Margolis RL Ross CA Organization of the human synphilin-1 gene, a candidate for Parkinson's disease Mamm Genome 2000, 11(9):763-766 10.1007/s003350010123 10967135
11. O'Farrell C Pickford F Vink L McGowan E Cookson MR Sequence conservation between mouse and human synphilin-1 Neurosci Lett 2002, 322(1):9-12 10.1016/S0304-3940(02)00068-X 11958831
12. Marx FP Holzmann C Strauss KM Li L Eberhardt O Gerhardt E Cookson MR Hernandez D Farrer MJ Kachergus J Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease Hum Mol Genet 2003, 12(11):1223-1231 10.1093/hmg/ ddg134 12761037
13. Scott WK Nance MA Watts RL Hubble JP Koller WC Lyons K Pahwa R Stern MB Colcher A Hiner BC Complete genomic screen in Parkinson disease: evidence for multiple genes Jama 2001, 286(18):2239-2244 10.1001/ jama.286.18.2239 11710888
14. Pankratz N Nichols WC Uniacke SK Halter C Rudolph A Shults C Conneally PM Foroud T Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations Am J Hum Genet 2002, 71(1):124-135 384969 12058349 10.1086/341282
15. Hicks AA Petursson H Jonsson T Stefansson H Johannsdottir HS Sainz J Frigge ML Kong A Gulcher JR Stefansson K A susceptibility gene for late-onset idiopathic Parkinson's disease Ann Neurol 2002, 52(5):549-555 10.1002/ana.10324 12402251
16. Evangelou E Maraganore DM Ioannidis JP Meta-analysis in genome-wide association datasets: Strategies and application in Parkinson disease PLoS ONE 2007, 2:e196 1805816 17332845 10.1371/journal.pone.0000196
17. Gelb DJ Oliver E Gilman S Diagnostic criteria for Parkinson disease Arch Neurol 1999, 56(1):33-39 10.1001/archneur.56.1.33 9923759
18. http://www.ncbi.nlm.nih.gov
19. Barrett JC Fry B Maller J Daly MJ Haploview: Analysis and visualization of LD and haplotype maps Bioinformatics 2005, 21(2):263-265 10.1093/ bioinformatics/bth457 15297300
20. Gabriel SB Schaffner SF Nguyen H Moore JM Roy J Blumenstiel B Higgins J DeFelice M Lochner A Faggart M The structure of haplotype blocks in the human genome Science New York, NY 2002, 296(5576):2225-2229
21. http://www.ensembl.org/
22. http://www.bioinformatics.org/macroshack/prog_list.html
23. Sham PC Curtis D Monte Carlo tests for associations between disease and alleles at highly polymorphic loci Annals of human genetics 1995, 59(Pt 1):97-105 10.1111/j.1469-1809.1995.tb01608.x 7762987
24. http://www.statpages.org
25. http://www.fruitfly.org/seq_tools/splice.html
26. Farrer M Destee A Levecque C Singleton A Engelender S Becquet E Mouroux V Richard F Defebvre L Crook R Genetic analysis of synphilin-1 in familial Parkinson's disease Neurobiol Dis 2001, 8(2):317-323 10.1006/ nbdi.2000.0326 11300726
27. Bandopadhyay R de Silva R Khan N Graham E Vaughan J Engelender S Ross C Morris H Morris C Wood NW No pathogenic mutations in the synphilin-1 gene in Parkinson's disease Neurosci Lett 2001, 307(2):125-127 10.1016/ S0304-3940(01)01935-8 11427316
28. Maraganore DM Farrer MJ Lesnick TG de Andrade M Bower JH Hernandez D Hardy JA Rocca WA Case-control study of the alpha-synuclein interacting protein gene and Parkinson's disease Mov Disord 2003, 18(11):1233-1239 10.1002/mds.10547 14639662
29. Liani E Eyal A Avraham E Shemer R Szargel R Berg D Bornemann A Riess O Ross CA Rott R Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease Proc Natl Acad Sci USA 2004, 101(15):5500-5505 397412 15064394 10.1073/pnas.0401081101
30. Lim KL Chew KC Tan JM Wang C Chung KK Zhang Y Tanaka Y Smith W Engelender S Ross CA Parkin mediates nonclassical, proteasomal-independent ubiquitination of synphilin-1: Implications for Lewy body formation J Neurosci 2005, 25(8):2002-2009 10.1523/ JNEUROSCI.4474-04.2005 15728840