Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease

Neurobiology of Aging

Volumn 45, Issue , 2016, Pages 212.e13-

  Ross, Jay P ^a,b   Dupre, Nicolas ^c   Dauvilliers, Yves ^d   Strong, Stephanie ^a,b   Ambalavanan, Amirthagowri ^a,b   Spiegelman, Dan ^a,b   Dionne Laporte, Alexandre ^a,b   Pourcher, Emanuelle ^c   Langlois, Melanie ^c   Boivin, Michel ^e,f   Leblond, Claire S ^a,b   Dion, Patrick A ^a,b   Rouleau, Guy A ^a,b   Gan Or, Ziv ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c LAVAL UNIVERSITY   (Canada)

^d GUI DE CHAULIAC HOSPITAL   (France)

^e UNIVERSITÉ LAVAL   (Canada)

^f TOMSK STATE UNIVERSITY   (Russian Federation)

Author keywords

DNAJC13; MIPs; Parkinson's disease

Indexed keywords

PROTEIN DNAJ; PROTEIN DNAJC13; UNCLASSIFIED DRUG; CHAPERONE; DNAJC13 PROTEIN, HUMAN;

AGED; ARTICLE; CANADIAN; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; DNAJC13 GENE; FEMALE; FRENCHMAN; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PARKINSON DISEASE; PRIORITY JOURNAL; ADULT; CANADA; CAUCASIAN; DNA SEQUENCE; FRANCE; GENETIC ASSOCIATION STUDY; GENETICS; MIDDLE AGED; MUTATION;

ADULT; AGED; CANADA; COHORT STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FRANCE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; MUTATION; PARKINSON DISEASE; SEQUENCE ANALYSIS, DNA;

EID: 84969627695     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2016.04.023     Document Type: Article

References (27)

1. Adzhubei, I.A., Schmidt, S., Peshkin, L., Ramensky, V.E., Gerasimova, A., Bork, P., Kondrashov, A.S., Sunyaev, S.R., A method and server for predicting damaging missense mutations. Nat. Methods 7 (2010), 248–249.
2. Appel-Cresswell, S., Rajput, A.H., Sossi, V., Thompson, C., Silva, V., McKenzie, J., Dinelle, K., McCormick, S.E., Vilarino-Guell, C., Stoessl, A.J., Dickson, D.W., Robinson, C.A., Farrer, M.J., Rajput, A., Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism. Mov. Disord. 29 (2014), 1684–1687.
3. Davydov, E.V., Goode, D.L., Sirota, M., Cooper, G.M., Sidow, A., Batzoglou, S., Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput. Biol., 6, 2010, e1001025.
4. Edvardson, S., Cinnamon, Y., Ta-Shma, A., Shaag, A., Yim, Y.I., Zenvirt, S., Jalas, C., Lesage, S., Brice, A., Taraboulos, A., Kaestner, K.H., Greene, L.E., Elpeleg, O., A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. PLoS One, 7, 2012, e36458.
5. Foo, J.N., Liany, H., Tan, L.C., Au, W.L., Prakash, K.M., Liu, J., Tan, E.K., DNAJ mutations are rare in Chinese Parkinson's disease patients and controls. Neurobiol. Aging 35 (2014), 935.e1–935.e2.
6. Gan-Or, Z., Bar-Shira, A., Dahary, D., Mirelman, A., Kedmi, M., Gurevich, T., Giladi, N., Orr-Urtreger, A., Association of sequence alterations in the putative promoter of RAB7L1 with a reduced Parkinson disease risk. Arch. Neurol. 69 (2012), 105–110.
7. Girard, M., Poupon, V., Blondeau, F., McPherson, P.S., The DnaJ-domain protein RME-8 functions in endosomal trafficking. J. Biol. Chem. 280 (2005), 40135–40143.
8. Guo, X.Y., Chen, Y.P., Song, W., Zhao, B., Cao, B., Wei, Q.Q., Ou, R.W., Yang, Y., Yuan, L.X., Shang, H.F., An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy in China. Eur. J. Neurol. 21 (2014), 1337–1343.
9. Gustavsson, E.K., Trinh, J., Guella, I., Vilarino-Guell, C., Appel-Cresswell, S., Stoessl, A.J., Tsui, J.K., McKeown, M., Rajput, A., Rajput, A.H., Aasly, J.O., Farrer, M.J., DNAJC13 genetic variants in parkinsonism. Mov. Disord. 30 (2015), 273–278.
10. Hughes, A.J., Daniel, S.E., Kilford, L., Lees, A.J., Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J. Neurol. Neurosurg. Psychiatry 55 (1992), 181–184.
11. Kumar, P., Henikoff, S., Ng, P.C., Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4 (2009), 1073–1081.
12. Li, H., Durbin, R., Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25 (2009), 1754–1760.
13. Lorenzo-Betancor, O., Ogaki, K., Soto-Ortolaza, A.I., Labbe, C., Walton, R.L., Strongosky, A.J., van Gerpen, J.A., Uitti, R.J., McLean, P.J., Springer, W., Siuda, J., Opala, G., Krygowska-Wajs, A., Barcikowska, M., Czyzewski, K., McCarthy, A., Lynch, T., Puschmann, A., Rektorova, I., Sanotsky, Y., Vilarino-Guell, C., Farrer, M.J., Ferman, T.J., Boeve, B.F., Petersen, R.C., Parisi, J.E., Graff-Radford, N.R., Dickson, D.W., Wszolek, Z.K., Ross, O.A., DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients. Eur. J. Neurol. 22 (2015), 1323–1325.
14. MacLeod, D.A., Rhinn, H., Kuwahara, T., Zolin, A., Di Paolo, G., McCabe, B.D., Marder, K.S., Honig, L.S., Clark, L.N., Small, S.A., Abeliovich, A., RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk. Neuron 77 (2013), 425–439.
15. McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., DePristo, M.A., The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20 (2010), 1297–1303.
16. Miura, E., Hasegawa, T., Konno, M., Suzuki, M., Sugeno, N., Fujikake, N., Geisler, S., Tabuchi, M., Oshima, R., Kikuchi, A., Baba, T., Wada, K., Nagai, Y., Takeda, A., Aoki, M., VPS35 dysfunction impairs lysosomal degradation of alpha-synuclein and exacerbates neurotoxicity in a Drosophila model of Parkinson's disease. Neurobiol. Dis. 71 (2014), 1–13.
17. Noreau, A., Riviere, J.B., Diab, S., Dion, P.A., Panisset, M., Soland, V., Jodoin, N., Langlois, M., Chouinard, S., Dupre, N., Rouleau, G.A., Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort. Can J. Neurol. Sci. 38 (2011), 772–773.
18. O'Roak, B.J., Vives, L., Fu, W., Egertson, J.D., Stanaway, I.B., Phelps, I.G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., Munson, J., Hiatt, J.B., Turner, E.H., Levy, R., O'Day, D.R., Krumm, N., Coe, B.P., Martin, B.K., Borenstein, E., Nickerson, D.A., Mefford, H.C., Doherty, D., Akey, J.M., Bernier, R., Eichler, E.E., Shendure, J., Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338 (2012), 1619–1622.
19. Pankratz, N., Wilk, J.B., Latourelle, J.C., DeStefano, A.L., Halter, C., Pugh, E.W., Doheny, K.F., Gusella, J.F., Nichols, W.C., Foroud, T., Myers, R.H., Psg, P., GenePd Investigators, C., Molecular Genetic, L. Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum. Genet. 124 (2009), 593–605.
20. Park, B.C., Yim, Y.I., Zhao, X., Olszewski, M.B., Eisenberg, E., Greene, L.E., The clathrin-binding and J-domains of GAK support the uncoating and chaperoning of clathrin by Hsc70 in the brain. J. Cell Sci. 128 (2015), 3811–3821.
21. Perrett, R.M., Alexopoulou, Z., Tofaris, G.K., The endosomal pathway in Parkinson's disease. Mol. Cell Neurosci. 66 (2015), 21–28.
22. Pihlstrom, L., Rengmark, A., Bjornara, K.A., Dizdar, N., Fardell, C., Forsgren, L., Holmberg, B., Larsen, J.P., Linder, J., Nissbrandt, H., Tysnes, O.B., Dietrichs, E., Toft, M., Fine mapping and resequencing of the PARK16 locus in Parkinson's disease. J. Hum. Genet. 60 (2015), 357–362.
23. Rhodes, S.L., Sinsheimer, J.S., Bordelon, Y., Bronstein, J.M., Ritz, B., Replication of GWAS associations for GAK and MAPT in Parkinson's disease. Ann. Hum. Genet. 75 (2011), 195–200.
24. Seaman, M., Freeman, C.L., Analysis of the Retromer complex-WASH complex interaction illuminates new avenues to explore in Parkinson disease. Commun. Integr. Biol., 7, 2014, e29483.
25. Vilarino-Guell, C., Rajput, A., Milnerwood, A.J., Shah, B., Szu-Tu, C., Trinh, J., Yu, I., Encarnacion, M., Munsie, L.N., Tapia, L., Gustavsson, E.K., Chou, P., Tatarnikov, I., Evans, D.M., Pishotta, F.T., Volta, M., Beccano-Kelly, D., Thompson, C., Lin, M.K., Sherman, H.E., Han, H.J., Guenther, B.L., Wasserman, W.W., Bernard, V., Ross, C.J., Appel-Cresswell, S., Stoessl, A.J., Robinson, C.A., Dickson, D.W., Ross, O.A., Wszolek, Z.K., Aasly, J.O., Wu, R.M., Hentati, F., Gibson, R.A., McPherson, P.S., Girard, M., Rajput, M., Rajput, A.H., Farrer, M.J., DNAJC13 mutations in Parkinson disease. Hum. Mol. Genet. 23 (2014), 1794–1801.
26. Wang, K., Li, M., Hakonarson, H., ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res., 38, 2010, e164.
27. Wolfgang, V., Conducting meta-analyses in R with the metafor package. J. Stat. Softw. 36 (2010), 1–48.