SNCA locus duplication carriers: From genetics to Parkinson disease phenotypes

Human Mutation

Volumn 32, Issue 4, 2011, Pages

  Mutez, Eugénie ^a,b,c   Leprêtre, Frédéric ^a,b   Le Rhun, Emilie ^c   Larvor, Lydie ^a,b   Duflot, Aurélie ^a,b   Mouroux, Vincent ^a,b   Kerckaert, Jean Pierre ^b   Figeac, Martin ^b   Dujardin, Kathy ^b,c   Destée, Alain ^a,b,c   Chartier Harlin, Marie Christine ^a,b  

^a JEAN PIERRE AUBERT RESEARCH CENTER   (France)

^b UNIV LILLE   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Alpha synuclein; Duplication; Overexpression; Parkinson; SNCA

Indexed keywords

AF4 FMR2 FAMILY MEMBER 1 PROTEIN; ALPHA SYNUCLEIN; BREAST CANCER RESISTANCE PROTEIN; CHROMOSOME 4 OPEN READING FRAME 36 PROTEIN; DENTIN MATRIX PROTEIN 1; DENTIN SIALOPHOSPHOPROTEIN; FAM13A OPPOSITE STRAND PROTEIN; FAMILY WITH SEQUENCE SIMILARITY 13 MEMBER A PROTEIN; HECT DOMAIN AND RLD 3 PROTEIN; HECT DOMAIN AND RLD 5 PROTEIN; HECT DOMAIN AND RLD 6 PROTEIN; HYDROXYSTEROID (17BETA) DEHYDROGENASE 13; IOFLUPANE I 123; KELCH LIKE 8 PROTEIN; LEVODOPA; MATRIX EXTRACELLULAR PHOSPHOGLYCOPROTEIN; MESSENGER RNA; MITOGEN ACTIVATED PROTEIN KINASE 10; MULTIMERIN 1; NEUROLEPTIC AGENT; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 13; OSTEOPONTIN; POLYCYSTIC KIDNEY DISEASE 2 PROTEIN; PROTEIN; PROTEIN PHOSPHATASE 1K; SOLUTE CARRIER FAMILY 10 MEMBER 6; SPARC LIKE 1 PROTEIN; THYMOSIN LIKE 3; TIGGER TRANSPOSABLE ELEMENT DERIVED 2 PROTEIN; UNCLASSIFIED DRUG; UNINDEXED DRUG;

ADULT; ARTICLE; CELL IMMORTALIZATION; CLINICAL ARTICLE; DISEASE SEVERITY; DRUG UPTAKE; FEMALE; GENE DUPLICATION; GENE LOCUS; GENE OVEREXPRESSION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LYMPHOBLASTOID CELL; MALE; NUCLEOTIDE SEQUENCE; PARKINSON DISEASE; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; PRIORITY JOURNAL; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SYMPTOM;

ALPHA-SYNUCLEIN; BASE SEQUENCE; GENE DUPLICATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LONG INTERSPERSED NUCLEOTIDE ELEMENTS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; PARKINSON DISEASE; PEDIGREE; PHENOTYPE;

PARKINSONIA;

EID: 79952775732     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21459     Document Type: Article

References (28)

1. Ahn TB, Kim SY, Kim JY, Park SS, Lee DS, Min HJ, Kim YK, Kim SE, Kim JM, Kim HJ, Cho J, Jeon BS. 2008. alpha-Synuclein gene duplication is present in sporadic Parkinson disease. Neurology 70:43-49.
2. Babashok DV, Kazazian HH. 2007. Progress in understanding the biology of the human mutagen LINE-1. Hum Mutat 28:527-539.
3. Belancio VP, Deininger PL, Roy-Engel AM. 2009. LINE dancing in the human genome: transposable elements and disease. Genome Med 1:97.
4. Chartier-Harlin MC, Kachergus J, Roumier C, Mouroux V, Douay X, Lincoln S, Levecque C, Larvor L, Andrieux J, Hulihan M, Waucquier N, Defebvre L, Amouyel P, Farrer M, Destée A. 2004. Alpha-synuclein locus duplication causes familial Parkinson's disease. Lancet 364:1167-1169.
5. Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L, Lee C, Turner DJ, Hurles ME. 2010. Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet 42:385-391.
6. Dujardin K, Krystkowiak P, Defebvre L, Blond S, Destée A. 2000. A case of severe dysexecutive syndrome consecutive to chronic bilateral pallidal stimulation. Neuropsychologia 38:1305-1315.
7. Emre M, Aarsland D, Brown R, Burn DJ, Duyckaerts C, Mizuno Y, Broe GA, Cummings J, Dickson DW, Gauthier S, Goldman J, Goetz C, Korczyn A, Lees A, Levy R, Litvan I, McKeith I, Olanow W, Poewe W, Quinn N, Sampaio C, Tolosa E, Dubois B. 2007. Clinical diagnostic criteria for dementia associated with Parkinson's disease. Mov Disord 22:1689-1707.
8. Ibáñez P, Lesage S, Janin S, Lohmann E, Durif F, Destée A, Bonnet AM, Brefel-Courbon C, Heath S, Zelenika D, Agid Y, Dürr A, Brice A.; French Parkinson's Disease Genetics Study Group. 2009. Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. Arch Neurol 66:102-108.
9. Inoue K, Lupski JR. 2002. Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet 3:199-242.
10. Lee JE, Nam HY, Shim SM, Bae GR, Han BG, Jeon JP. 2010. Expression phenotype changes of EBV-transformed lymphoblastoid cell lines during long-term subculture and its clinical significance. Cell Prolif 43:378-384.
11. Lesage S, Brice A. 2009. Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum Mol Genet 18:R48-59.
12. Lesnick TG, Papapetropoulos S, Mash DC, Ffrench-Mullen J, Shehadeh L, de Andrade M, Henley JR, Rocca WA, Ahlskog JE, Maraganore DM. 2007. A genomic pathway approach to a complex disease: axon guidance and Parkinson disease. PLoS Genet 3:e98.
13. Maraganore DM, de Andrade M, Elbaz A, Farrer MJ, Ioannidis JP, Krüger R, Rocca WA, Schneider NK, Lesnick TG, Lincoln SJ, Hulihan MM, Aasly JO, Ashizawa T, Chartier-Harlin MC, Checkoway H, Ferrarese C, Hadjigeorgiou G, Hattori N, Kawakami H, Lambert JC, Lynch T, Mellick GD, Papapetropoulos S, Parsian A, Quattrone A, Riess O, Tan EK, Van Broeckhoven C; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. 2006. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA 296:661-670.
14. Mutez E, Larvor L, Leprêtre F, Mouroux V, Hamalek D, Kerckaert JP, Pérez-Tur J, Waucquier N, Vanbesien-Mailliot C, Duflot A, Devos D, Defebvre L, Kreisler A, Frigard B, Destée A, Chartier-Harlin MC. Transcriptional profile of Parkinson blood mononuclear cells with LRRK2 mutation. doi: 10.1016/j.neurobiolaging.2009.10.016.
15. Nishioka K, Hayashi S, Farrer MJ, Singleton AB, Yoshino H, Imai H, Kitami T, Sato K, Kuroda R, Tomiyama H, Mizoguchi K, Murata M, Toda T, Imoto I, Inazawa J, Mizuno Y, Hattori N. 2006. Clinical heterogeneity of (-synuclein gene duplication in Parkinson's disease. Ann Neurol 59:298-309.
16. Nishioka K, Ross OA, Ishii K, Kachergus JM, Ishiwata K, Kitagawa M, Kono S, Obi T, Mizoguchi K, Inoue Y, Imai H, Takanashi M, Mizuno Y, Farrer MJ, Hattori N. 2009. Expanding the clinical phenotype of SNCA duplication carriers. Mov Disord 24:1811-1819.
17. Penzkofer T, Dandekar T, Zemojtel T. 2005. L1base: from functional annotation to prediction of active LINE-1 elements. Nucleic Acids Res 33(Database issue):D498-500.
18. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. 1997. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276:2045-2047.
19. Ross OA, Braithwaite AT, Skipper LM, Kachergus J, Hulihan MM, Middleton FA, Nishioka K, Fuchs J, Gasser T, Maraganore DM, Adler CH, Larvor L, Chartier-Harlin MC, Nilsson C, Langston JW, Gwinn K, Hattori N, Farrer MJ. 2008. Genomic investigation of (-synuclein multiplication and Parkinsonism. Ann Neurol 63:743-750.
20. Rozier L, El-Achkar E, Apiou F, Debatisse M. 2004. Characterization of a conserved aphidicolin-sensitive common fragile site at human 4q22 and mouse 6C1: possible association with an inherited disease and cancer. Oncogene 23:6872-6880.
21. Rugbjerg K, Friis S, Jørgensen TL, Ritz B, Korbo L, Olsen JH. 2010. Risk for Parkinson's disease among patients with osteoarthritis: a Danish cohort study. Mov Disord 25:2355-2360.
22. Satake W, Nakabayashi Y, Mizuta I, Hirota Y, Ito C, Kubo M, Kawaguchi T, Tsunoda T, Watanabe M, Takeda A, Tomiyama H, Nakashima K, Hasegawa K, Obata F, Yoshikawa T, Kawakami H, Sakoda S, Yamamoto M, Hattori N, Murata M, Nakamura Y, Toda T. 2009. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet 41:1303-1307.
23. Scherzer CR, Eklund AC, Morse LJ, Liao Z, Locascio JJ, Fefer D, Schwarzschild MA, Schlossmacher MG, Hauser MA, Vance JM, Sudarsky LR, Standaert DG, Growdon JH, Jensen RV, Gullans SR. 2007. Molecular markers of early Parkinson's disease based on gene expression in blood. Proc Natl Acad Sci U S A. 104:955-960.
24. Schmittgen TD, Livak KJ. 2008. Analyzing real-time PCR data by the comparative C(T) method. Nat Protoc 3:1101-1108.
25. Shaw CJ, Lupski JR. 2004. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 13:R57-64.
26. Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T. 2009. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 41:1308-1312.
27. Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K. 2003. Alpha-synuclein locus triplication causes Parkinson's disease. Science 302:841.
28. Voutsinas GE, Stavrou EF, Karousos G, Dasoula A, Papachatzopoulou A, Syrrou M, Verkerk AJ, van der Spek P, Patrinos GP, Stöger R, Athanassiadou A. 2010. Allelic imbalance of expression and epigenetic regulation within the alpha-synuclein wild-type and p.Ala53Thr alleles in Parkinson disease. Hum Mutat 31:685-691.