ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population

PLoS ONE

Volumn 7, Issue 8, 2012, Pages

  Lahut, Suna ^a   Ömür, Özgür ^a   Uyan, Özgün ^a   Aǧim, Zeynep Sena ^a   Özoǧuz, Aslihan ^a   Parman, Yeşim ^b   Deymeer, Feza ^b   Oflazer, Piraye ^b   Koç, Filiz ^c   Özçelik, Hilmi ^d   Auburger, Georg ^e   Başak, A Nazli ^a  

^a BOGAZICI UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

^c CUKUROVA UNIVERSITY   (Turkey)

^d MOUNT SINAI HOSPITAL   (Canada)

^e GOETHE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH RECEPTOR TYROSINE KINASE; POLYGLUTAMINE; PROTEIN TYROSINE KINASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; ATXN2 GENE; CAG REPEAT; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; ETHNIC GROUP; FAMILIAL DISEASE; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; RISK ASSESSMENT; SCHOOL CHILD; SH2B3 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TURKISH;

AMYOTROPHIC LATERAL SCLEROSIS; CASE-CONTROL STUDIES; COHORT STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; RISK FACTORS; TURKEY;

EID: 84865176096     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0042956     Document Type: Article

References (48)

1. Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, et al. ((2011)) Amyotrophic lateral sclerosis. Lancet 377:: 942--955.
2. Rosen DR, ((1993)) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 364:: 362.
3. Lagier-Tourenne C, Polymenidou M, Cleveland DW, ((2010)) TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. Hum Mol Genet 19:: R46--64.
4. Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, et al. ((2009)) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323:: 1205--1208.
5. Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, et al. ((2009)) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323:: 1208--1211.
6. Strong MJ, ((2010)) The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS). J Neurol Sci 288:: 1--12.
7. Colombrita C, Onesto E, Tiloca C, Ticozzi N, Silani V, et al. ((2011)) RNA-binding proteins and RNA metabolism: a new scenario in the pathogenesis of Amyotrophic lateral sclerosis. Arch Ital Biol 149:: 83--99.
8. Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, et al. ((2011)) Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477:: 211--215.
9. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, et al. ((2011)) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72:: 245--256.
10. Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, et al. ((2011)) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72:: 257--268.
11. Cronin S, Berger S, Ding J, Schymick JC, Washecka N, et al. ((2008)) A genome-wide association study of sporadic ALS in a homogenous Irish population. Hum Mol Genet 17:: 768--774.
12. Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, et al. ((2007)) Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol 6:: 322--328.
13. van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, et al. ((2009)) Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 41:: 1083--1087.
14. Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, et al. ((2010)) Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 466:: 1069--1075.
15. Chen Y, Huang R, Yang Y, Chen K, Song W, et al. (2011) Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis. Neurobiol Aging 32: 1925 e1921-1925.
16. Corrado L, Mazzini L, Oggioni GD, Luciano B, Godi M, et al. ((2011)) ATXN-2 CAG repeat expansions are interrupted in ALS patients. Hum Genet 130:: 575--580.
17. Daoud H, Belzil V, Martins S, Sabbagh M, Provencher P, et al. ((2011)) Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Arch Neurol 68:: 739--742.
18. Lee T, Li YR, Ingre C, Weber M, Grehl T, et al. ((2011)) Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum Mol Genet 20:: 1697--1700.
19. Ross OA, Rutherford NJ, Baker M, Soto-Ortolaza AI, Carrasquillo MM, et al. ((2011)) Ataxin-2 repeat-length variation and neurodegeneration. Hum Mol Genet 20:: 3207--3212.
20. Van Damme P, Veldink JH, van Blitterswijk M, Corveleyn A, van Vught PW, et al. ((2011)) Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology 76:: 2066--2072.
21. Gispert S, Kurz A, Waibel S, Bauer P, Liepelt I, et al. ((2012)) The modulation of Amyotrophic Lateral Sclerosis risk by Ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis 45:: 356--361.
22. Lee T, Li YR, Chesi A, Hart MP, Ramos D, et al. ((2011)) Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis. Neurology 76:: 2062--2065.
23. Ralser M, Nonhoff U, Albrecht M, Lengauer T, Wanker EE, et al. ((2005)) Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways. Hum Mol Genet 14:: 2893--2909.
24. Satterfield TF, Pallanck LJ, ((2006)) Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes. Hum Mol Genet 15:: 2523--2532.
25. Nonhoff U, Ralser M, Welzel F, Piccini I, Balzereit D, et al. ((2007)) Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules. Mol Biol Cell 18:: 1385--1396.
26. van de Loo S, Eich F, Nonis D, Auburger G, Nowock J, ((2009)) Ataxin-2 associates with rough endoplasmic reticulum. Exp Neurol 215:: 110--118.
27. Nonis D, Schmidt MH, van de Loo S, Eich F, Dikic I, et al. ((2008)) Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. Cell Signal 20:: 1725--1739.
28. Huynh DP, Figueroa K, Hoang N, Pulst SM, ((2000)) Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat Genet 26:: 44--50.
29. Pang JT, Giunti P, Chamberlain S, An SF, Vitaliani R, et al. ((2002)) Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases. Brain 125:: 656--663.
30. Huynh DP, Nguyen DT, Pulst-Korenberg JB, Brice A, Pulst SM, ((2007)) Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death. Exp Neurol 203:: 531--541.
31. Auburger GW, ((2012)) Spinocerebellar ataxia type 2. Handb Clin Neurol 103:: 423--436.
32. Lastres-Becker I, Rub U, Auburger G, ((2008)) Spinocerebellar ataxia 2 (SCA2). Cerebellum 7:: 115--124.
33. Gwinn-Hardy KA, Crook R, Lincoln S, Adler CH, Caviness JN, et al. ((2000)) A kindred with Parkinson's disease not showing genetic linkage to established loci. Neurology 54:: 504--507.
34. Yu Z, Zhu Y, Chen-Plotkin AS, Clay-Falcone D, McCluskey L, et al. ((2011)) PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats. PLoS One 6:: e17951.
35. Choudhry S, Mukerji M, Srivastava AK, Jain S, Brahmachari SK, ((2001)) CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms. Hum Mol Genet 10:: 2437--2446.
36. Brooks BR, Miller RG, Swash M, Munsat TL, ((2000)) El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 1:: 293--299.
37. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. ((2007)) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:: 559--575.
38. Barrett JC, Fry B, Maller J, Daly MJ, ((2005)) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:: 263--265.
39. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, et al. ((2002)) The structure of haplotype blocks in the human genome. Science 296:: 2225--2229.
40. Lee J K (2010) Statistical Bioinformatics: A Guide for Life and Biomedical Science Researchers. New Jersey: Wiley-Blackwell. 293-94.
41. Soraru G, Clementi M, Forzan M, Orsetti V, D'Ascenzo C, et al. ((2011)) ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion. Neurology 76:: 2030--2031.
42. Van Langenhove T, van der Zee J, Engelborghs S, Vandenberghe R, Santens P, et al. (2011) Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts. Neurobiol Aging.
43. Takaki S, Sauer K, Iritani BM, Chien S, Ebihara Y, et al. ((2000)) Control of B cell production by the adaptor protein lnk. Definition Of a conserved family of signal-modulating proteins. Immunity 13:: 599--609.
44. Ahmed Z, Pillay TS, ((2001)) Functional effects of APS and SH2-B on insulin receptor signalling. Biochem Soc Trans 29:: 529--534.
45. O'Brien KB, O'Shea JJ, Carter-Su C, ((2002)) SH2-B family members differentially regulate JAK family tyrosine kinases. J Biol Chem 277:: 8673--8681.
46. Devalliere J, Charreau B, ((2011)) The adaptor Lnk (SH2B3): an emerging regulator in vascular cells and a link between immune and inflammatory signaling. Biochem Pharmacol 82:: 1391--1402.
47. Wang TC, Chiu H, Chang YJ, Hsu TY, Chiu IM, et al. ((2011)) The adaptor protein SH2B3 (Lnk) negatively regulates neurite outgrowth of PC12 cells and cortical neurons. PLoS One 6:: e26433.
48. Alcina A, Vandenbroeck K, Otaegui D, Saiz A, Gonzalez JR, et al. ((2010)) The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis. Genes Immun 11:: 439--445.