Linkage analysis and whole-exome sequencing exclude extra mutations responsible for the parkinsonian phenotype of spinocerebellar ataxia-2

Neurobiology of Aging

Volumn 36, Issue 1, 2015, Pages 545.e1-545.e7

  Wang, Chaodong ^a,b,c   Xu, Yanming ^d   Feng, Xiuli ^e   Ma, Jinghong ^a,b   Xie, Shu ^e   Zhang, Yanli ^a   Tang, Bei Sha ^f   Chan, Piu ^a,b,g,h  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b BEIJING INSTITUTE FOR BRAIN DISORDERS   (China)

^c FUJIAN MEDICAL UNIVERSITY   (China)

^d SICHUAN UNIVERSITY   (China)

^e CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

^f CENTRAL SOUTH UNIVERSITY   (China)

^g BEIJING UNIVERSITY OF POSTS AND TELECOMMUNICATIONS   (China)

^h Beijing Key Laboratory for Parkinson's Disease   (China)

Author keywords

Linkage analysis; Mutation; Parkinsonism; Spinocerebellar ataxia 2; Whole exome sequencing

Indexed keywords

ADULT; ARTICLE; ATXN2 GENE; CAG REPEAT; CHINESE; CHROMOSOME 12Q; CLINICAL ARTICLE; DNA SEQUENCE; EXOME; FEMALE; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MALE; MIDDLE AGED; PARKINSONISM; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM; SPINOCEREBELLAR ATAXIA 2; SPINOCEREBELLAR DEGENERATION; GENETIC LINKAGE; GENETICS; MUTATION; PARKINSON DISEASE; PHENOTYPE; TRINUCLEOTIDE REPEAT; YOUNG ADULT;

NERVE PROTEIN; SCA2 PROTEIN;

ADULT; EXOME; FEMALE; GENETIC LINKAGE; HUMANS; MALE; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; PARKINSON DISEASE; PEDIGREE; PHENOTYPE; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION; YOUNG ADULT;

EID: 84920429989     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2014.07.039     Document Type: Article

References (27)

1. Aguiar J., Santurlidis S., Novok J., Alexander C., Rudnicki D., Gispert S., Schulz W., Aburger G. Identification of the physiological promoter for spino-cerebellar ataxia 2 gene reveals a CpG island for promoter activity situated into the exon 1 of this gene and provides data about the origin of the nonmethylated state of these types of islands. Biochem. Biophys. Res. Commun. 1999, 254:315-318.
2. Chan D.K., Mellick G., Cai H., Wang X.L., Ng P.W., Pang C.P., Woo J., Kay R. The alpha-synuclein gene and Parkinson disease in a Chinese population. Arch. Neurol. 2000, 57:501-503.
3. Charles P., Camuzat A., Benammar N., Sellal F., Destée A., Bonnet A.M., Lesage S., Le Ber I., Stevanin G., Dürr A., Brice A. Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?. Neurology 2007, 69:1970-1975. French Parkinson's Disease Genetic Study Group.
4. Chartier-Harlin M.C., Dachsel J.C., Vilariño-Güell C., Lincoln S.J., Leprêtre F., Hulihan M.M., Kachergus J., Milnerwood A.J., Tapia L., Song M.S., Le Rhun E., Mutez E., Larvor L., Duflot A., Vanbesien-Mailliot C., Kreisler A., Ross O.A., Nishioka K., Soto-Ortolaza A.I., Cobb S.A., Melrose H.L., Behrouz B., Keeling B.H., Bacon J.A., Hentati E., Williams L., Yanagiya A., Sonenberg N., Lockhart P.J., Zubair A.C., Uitti R.J., Aasly J.O., Krygowska-Wajs A., Opala G., Wszolek Z.K., Frigerio R., Maraganore D.M., Gosal D., Lynch T., Hutchinson M., Bentivoglio A.R., Valente E.M., Nichols W.C., Pankratz N., Foroud T., Gibson R.A., Hentati F., Dickson D.W., Destée A., Farrer M.J. Translation initiator EIF4G1 mutations in familial Parkinson disease. Am. J. Hum. Genet. 2011, 89:398-406.
5. Chen Y., Chen K., Song W., Chen X., Cao B., Huang R., Zhao B., Guo X., Burgunder J., Li J., Shang H.F. VPS35 Asp620Asn and EIF4G1 Arg1205His mutations are rare in Parkinson disease from southwest China. Neurobiol. Aging 2013, 34:1709.e7-1709.e8.
6. Choudhry S., Mukerji M., Srivastava A.K., Jain S., Brahmachari S.K. CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms. Hum. Mol. Genet. 2001, 10:2437-2446.
7. Elden A.C., Kim H.J., Hart M.P., Chen-Plotkin A.S., Johnson B.S., Fang X., Armakola M., Geser F., Greene R., Lu M.M., Padmanabhan A., Clay-Falcone D., McCluskey L., Elman L., Juhr D., Gruber P.J., Rüb U., Auburger G., Trojanowski J.Q., Lee V.M., Van Deerlin V.M., Bonini N.M., Gitler A.D. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 2010, 466:1069-1075.
8. Farg M.A., Soo K.Y., Warraich S.T., Sundaramoorthy V., Blair I.P., Atkin J.D. Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis. Hum. Mol. Genet. 2013, 22:717-728.
9. Furtado S., Payami H., Lockhart P.J., Hanson M., Nutt J.G., Singleton A.A. Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov. Disord. 2004, 19:622-629.
10. Guo R., Hu X., Chen Q., Zhang Y., Zhang Y., Sun Y., Hu G. The LRRK2 gene is mutated in a Chinese autosomal-dominant Parkinson's disease family. Genet. Test. Mol. Biomarkers 2013, 17:131-134.
11. Li R., Li Y., Kristiansen K., Wang J. SOAP: short oligonucleotide alignment program. Bioinformatics 2008, 24:713-714.
12. Li R., Zhu H., Ruan J., Qian W., Fang X., Shi Z., Li Y., Li S., Shan G., Kristiansen K., Li S., Yang H., Wang J., Wang J. De novo assembly of human genomes with massively parallel short read sequencing. Genome Res. 2010, 20:265-272.
13. Lim S.W., Zhao Y., Chua E., Law H.Y., Yuen Y., Pavanni R., Wong M.C., Ng I.S., Yoon C.S., Puong K.Y., Lim S.H., Tan E.K. Genetic analysis of SCA2, 3 and 17 in idiopathic Parkinson's disease. Neurosci. Lett. 2006, 403:11-14.
14. Lin C.H., Tzen K.Y., Yu C.Y., Tai C.H., Farrer M.J., Wu R.M. LRRK2 mutation in familial Parkinson's disease in a Taiwanese population: clinical, PET, and functional studies. J.Biomed. Sci. 2008, 15:661-667.
15. Liu X., Lu M., Tang L., Zhang N., Chui D., Fan D. ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis. Neurobiol. Aging 2013, 34:2236.e5-2236.e8.
16. Paisán-Ruíz C., Jain S., Evans E.W., Gilks W.P., Simón J., van der Brug M., López de Munain A., Aparicio S., Gil A.M., Khan N., Johnson J., Martinez J.R., Nicholl D., Carrera I.M., Pena A.S., de Silva R., Lees A., Martí-Massó J.F., Pérez-Tur J., Wood N.W., Singleton A.B. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004, 18:595-600.
17. Polymeropoulos M.H., Lavedan C., Leroy E., Ide S.E., Dehejia A., Dutra A., Pike B., Root H., Rubenstein J., Boyer R., Stenroos E.S., Chandrasekharappa S., Athanassiadou A., Papapetropoulos T., Johnson W.G., Lazzarini A.M., Duvoisin R.C., Di Iorio G., Golbe L.I., Nussbaum R.L. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997, 276:2045-2047.
18. Ross O.A., Rutherford N.J., Baker M., Soto-Ortolaza A.I., Carrasquillo M.M., DeJesus-Hernandez M., Adamson J., Li M., Volkening K., Finger E., Seeley W.W., Hatanpaa K.J., Lomen-Hoerth C., Kertesz A., Bigio E.H., Lippa C., Woodruff B.K., Knopman D.S., White C.L., Van Gerpen J.A., Meschia J.F., Mackenzie I.R., Boylan K., Boeve B.F., Miller B.L., Strong M.J., Uitti R.J., Younkin S.G., Graff-Radford N.R., Petersen R.C., Wszolek Z.K., Dickson D.W., Rademakers R. Ataxin-2 repeat-length variation and neurodegeneration. Hum. Mol. Genet. 2011, 20:3207-3212.
19. Sobczak K., Krzyzosiak W.J. CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts. J.Biol. Chem. 2005, 280:3898-3910.
20. Sun H., Satake W., Zhang C., Nagai Y., Tian Y., Fu S., Yu J., Qian Y., Qian Y., Chu J., Toda T. Genetic and clinical analysis in a Chinese parkinsonism predominant spinocerebellar ataxia type 2 family. J.Hum. Genet. 2011, 56:330-334.
21. Van Langenhove T., van der, Zee J., Engelborghs S., Vandenberghe R., Santens P., Van den, Broeck M., Mattheijssens M., Peeters K., Nuytten D., Cras P., De Deyn P.P., De Jonghe P., Cruts M., Van Broeckhoven C. Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts. Neurobiol. Aging 2012, 33:1004.e17-1004.e20.
22. Wang L., Guo J.F., Nie L.L., Xu Q., Zuo X., Sun Q.Y., Yan X.X., Tang B.S. Anovel LRRK2 mutation in a mainland Chinese patient with familial Parkinson's disease. Neurosci. Lett. 2010, 468:198-201.
23. Wang J.L., Xiao B., Cui X.X., Guo J.F., Lei L.F., Song X.W., Shen L., Jiang H., Yan X.X., Pan Q., Long Z.G., Xia K., Tang B.S. Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: genetic, clinical, and positron emission tomography findings. Mov. Disord. 2009, 24:2007-2011.
24. Wu Y.R., Lin H.Y., Chen C.M., Gwinn-Hardy K., Ro L.S., Wang Y.C., Li S.H., Hwang J.C., Fang K., Hsieh-Li H.M., Li M.L., Tung L.C., Su M.T., Lu K.T., Lee-Chen G.J. Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. Clin. Genet. 2004, 65:209-214.
25. Yu F., Sabeti P.C., Hardenbol P., Fu Q., Fry B., Lu X., Ghose S., Vega R., Perez A., Pasternak S., Leal S.M., Willis T.D., Nelson D.L., Belmont J., Gibbs R.A. Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet. 2005, 1:e41.
26. Zhang Y., Chen S., Xiao Q., Cao L., Liu J., Rong T.Y., Ma J.F., Wang G., Wang Y., Chen S.D. Vacuolar protein sorting 35 Asp620Asn mutation is rare in the ethnic Chinese population with Parkinson's disease. Parkinsonism Relat. Disord. 2012, 18:638-640.
27. Zimprich A., Benet-Pagès A., Struhal W., Graf E., Eck S.H., Offman M.N., Haubenberger D., Spielberger S., Schulte E.C., Lichtner P., Rossle S.C., Klopp N., Wolf E., Seppi K., Pirker W., Presslauer S., Mollenhauer B., Katzenschlager R., Foki T., Hotzy C., Reinthaler E., Harutyunyan A., Kralovics R., Peters A., Zimprich F., Brücke T., Poewe W., Auff E., Trenkwalder C., Rost B., Ransmayr G., Winkelmann J., Meitinger T., Strom T.M. Amutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am. J. Hum. Genet. 2011, 89:168-175.