Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease

Human Molecular Genetics

Volumn 15, Issue 11, 2006, Pages 1816-1825

  Tang, Beisha ^a   Xiong, Hui ^b   Sun, Ping ^b   Zhang, Yuhu ^a   Wang, Danling ^b   Hu, Zhengmao ^a   Zhu, Zanhua ^a   Ma, Hong ^b   Pan, Qian ^a   Xia, Jia Hui ^a   Xia, Kun ^a   Zhang, Zhuohua ^b  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b BURNHAM INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

1 METHYL 4 PHENYLPYRIDINIUM; ALANINE; DJ 1 PROTEIN; GENE PRODUCT; LEUCINE; LEVODOPA; NEUROTOXIN; PROLINE; PROTEASOME; PTEN INDUCED KINASE 1; SERINE; UBIQUITIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL DEATH; CELL LINE; CELL PROTECTION; COMPLEX FORMATION; CONTROLLED STUDY; DOPAMINERGIC NERVE CELL; FEMALE; GENE EXPRESSION; GENETIC CODE; GENETIC STABILITY; GENETIC SUSCEPTIBILITY; GENETIC TRANSFECTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; INHERITANCE; MISSENSE MUTATION; ONSET AGE; PARKINSON DISEASE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; STEADY STATE; STRESS; WILD TYPE;

ADULT; AGE OF ONSET; AMINO ACID SEQUENCE; CELL LINE, TUMOR; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; ONCOGENE PROTEINS; PARKINSON DISEASE; PEDIGREE; PROTEIN KINASES; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 33744760852     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl104     Document Type: Article

References (50)

1. Lang, A.E. and Lozano, A.M. (1998) Parkinson's disease. Second of two parts. N. Engl. J. Med., 339, 1130-1143.
2. Lang, A.E. and Lozano, A.M. (1998) Parkinson's disease. First of two parts. N. Engl. J. Med., 339, 1044-1053.
3. Cookson, M.R. (2005) The biochemistry of Parkinson's Disease. Annu. Rev. Biochem., 74, 29-52.
4. Dawson, T.M. and Dawson, V.L. (2003) Molecular pathways of neurodegeneration in Parkinson's disease. Science, 302, 819-822.
5. Paisan-Ruiz, C., Jain, S., Evans, E.W., Gilks, W.P., Simon, J., van der Brug, M., Lopez de Munain, A., Aparicio, S., Gil, A.M., Khan, N. et al. (2004) Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron, 44, 595-600.
6. Zimprich, A., Biskup, S., Leitner, P., Lichtner, P., Farrer, M., Lincoln, S., Kachergus, J., Hulihan, M., Uitti, R.J., Calne, D.B. et al. (2004) Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron, 44, 601-607.
7. Spillantini, M.G., Schmidt, M.L., Lee, V.M., Trojanowski, J.Q., Jakes, R. and Goedert, M. (1997) Alpha-synuclein in Lewy bodies. Nature, 388, 839-840.
8. Conway, K.A., Lee, S.J., Rochet, J.C., Ding, T.T., Williamson, R.E. and Lansbury, P.T., Jr (2000) Acceleration of oligomerization, not fibrillization, is a shared property of both alpha-synuclein mutations linked to early-onset Parkinson's disease: Implications for pathogenesis and therapy. Proc. Natl Acad. Sci. USA, 97, 571-576.
9. Conway, K.A., Harper, J.D. and Lansbury, P.T. (1998) Accelerated in vitro fibril formation by a mutant alpha-synuclein linked to early-onset Parkinson disease. Nat. Med., 4, 1318-1320.
10. Valente, E.M., Abou-Sleiman, P.M., Caputo, V., Muqit, M.M., Harvey, K., Gispert, S., Ali, Z., Del Turco, D., Bentivoglio, A.R., Healy, D.G. et al. (2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science, 304, 1158-1160.
11. Kitada, T., Asakawa, S., Hattori, N., Matsumine, H., Yamamura, Y., Minoshima, S., Yokochi, M., Mizuno, Y. and Shimizu, N. (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature, 392, 605-608.
12. Bonifati, V., Rizzu, P., van Baren, M.J., Schaap, O., Breedveld, G.J., Krieger, E., Dekker, M.C., Squitieri, F., Ibanez, P., Joosse, M. et al. (2003) Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science, 299, 256-259.
13. Li, Y., Tomiyama, H., Sato, K., Hatano, Y., Yoshino, H., Atsumi, M., Kitaguchi, M., Sasaki, S., Kawaguchi, S., Miyajima, H. et al. (2005) Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. Neurology, 64, 1955-1957.
14. Hatano, Y., Li, Y., Sato, K., Asakawa, S., Yamamura, Y., Tomiyama, H., Yoshino, H., Asahina, M., Kobayashi, S., Hassin-Baer, S. et al. (2004) Novel PINK1 mutations in early-onset parkinsonism. Ann. Neurol., 56, 424-427.
15. Lockhart, P.J., Lincoln, S., Hulihan, M., Kachergus, J., Wilkes, K., Bisceglio, G., Mash, D.C. and Farrer, M.J. (2004) DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function. J. Med. Genet., 41, e22.
16. Abou-Sleiman, P.M., Healy, D.G. and Wood, N.W. (2004) Causes of Parkinson's disease: Genetics of DJ-1. Cell Tissue Res., 318, 185-188.
17. West, A.B. and Maidment, N.T. (2004) Genetics of parkin-linked disease. Hum. Genet., 114, 327-336.
18. Bonifati, V., Rohe, C.F., Breedveld, G.J., Fabrizio, E., De Mari, M., Tassorelli, C., Tavella, A., Marconi, R., Nicholl, D.J., Chien, H.F. et al. (2005) Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology, 65, 87-95.
19. Shimura, H., Hattori, N., Kubo, S., Mizuno, Y., Asakawa, S., Minoshima, S., Shimizu, N., Iwai, K., Chiba, T., Tanaka, K. et al. (2000) Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat. Genet., 25, 302-305.
20. Zhang, Y., Gao, J., Chung, K.K., Huang, H., Dawson, V.L. and Dawson, T.M. (2000) Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1. Proc. Natl Acad. Sci. USA, 97, 13354-13359.
21. Imai, Y., Soda, M. and Takahashi, R. (2000) Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity. J. Biol. Chem., 275, 35661-35664.
22. Taira, T., Saito, Y., Niki, T., Iguchi-Ariga, S.M., Takahashi, K. and Ariga, H. (2004) DJ-1 has a role in antioxidative stress to prevent cell death. EMBO Rep, 5, 213-218.
23. Takahashi-Niki, K., Niki, T., Taira, T., Iguchi-Ariga, S.M. and Ariga, H. (2004) Reduced anti-oxidative stress activities of DJ-1 mutants found in Parkinson's disease patients. Biochem. Biophys. Res. Commun., 320, 389-397.
24. Beilina, A., Van Der Brug, M., Ahmad, R., Kesavapany, S., Miller, D.W., Petsko, G.A. and Cookson, M.R. (2005) Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. Proc. Natl Acad. Sci. USA, 102, 5703-5708.
25. Papadimitriou, A., Veletza, V., Hadjigeorgiou, G.M., Patrikiou, A., Hirano, M. and Anastasopoulos, I. (1999) Mutated alpha-synuclein gene in two Greek kindreds with familial PD: Incomplete penetrance? Neurology, 52, 651-654.
26. Abou-Sleiman, P.M., Healy, D.G., Quinn, N., Lees, A.J. and Wood, N.W. (2003) The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann. Neurol., 54, 283-286.
27. Valente, E.M., Salvi, S., Ialongo, T., Marongiu, R., Elia, A.E., Caputo, V., Romito, L., Albanese, A., Dallapiccola, B. and Bentivoglio, A.R. (2004) PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann. Neurol., 56, 336-341.
28. Polymeropoulos, M.H., Lavedan, C., Leroy, E., Ide, S.E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R. et al. (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science, 276, 2045-2047.
29. Wilson, M.A., Collins, J.L., Hod, Y., Ringe, D. and Petsko, G.A. (2003) The 1.1-A resolution crystal structure of DJ-1, the protein mutated in autosomal recessive early onset Parkinson's disease. Proc. Natl Acad. Sci. USA, 100, 9256-9261.
30. Tao, X. and Tong, L. (2003) Crystal structure of human DJ-1, a protein associated with early onset Parkinson's disease. J. Biol. Chem., 278, 31372-31379.
31. Kim, R.H., Smith, P.D., Aleyasin, H., Hayley, S., Mount, M.P., Pownall, S., Wakeham, A., You-Ten, A.J., Kalia, S.K, Horne, P. et al. (2005) Hypersensitivity of DJ-1-deficient mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyrindine (MPTP) and oxidative stress. Proc. Natl Acad. Sci. USA, 102, 5215-5220.
32. Martinat, C., Shendelman, S., Jonason, A., Leete, T., Beal, M.F., Yang, L., Floss, T. and Abeliovich, A. (2004) Sensitivity to oxidative stress in DJ-1-deficient dopamine neurons: An ES-derived cell model of primary parkinsonism. PLoS Biol, 2, e327.
33. Yokota, T., Sugawara, K., Ito, K., Takahashi, R., Ariga, H. and Mizusawa, H. (2003) Down regulation of DJ-1 enhances cell death by oxidative stress, ER stress, and proteasome inhibition. Biochem. Biophys. Res. Commun., 312, 1342-1348.
34. Moore, D.J., Zhang, L., Troncoso, J., Lee, M.K., Hattori, N., Mizuno, Y., Dawson, T.M. and Dawson, V.L. (2005) Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress. Hum. Mol. Genet., 14, 71-84.
35. Chung, K.K., Zhang, Y., Lim, K.L., Tanaka, Y., Huang, H., Gao, J., Ross, C.A., Dawson, V.L. and Dawson, T.M. (2001) Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: Implications for Lewy-body formation in Parkinson disease. Nat. Med., 7, 1144-1150.
36. Shimura, H., Schlossmacher, M.G., Hattori, N., Frosch, M.P., Trockenbacher, A., Schneider, R., Mizuno, Y., Kosik, K.S. and Selkoe, D.J. (2001) Ubiquitination of a new form of alpha-synuclein by parkin from human brain: Implications for Parkinson's disease. Science, 293, 263-269.
37. Smith, W.W., Pei, Z., Jiang, H., Moore, D.J., Liang, Y., West, A.B., Dawson, V.L., Dawson, T.M. and Ross, C.A. (2005) Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin, and mutant LRRK2 induces neuronal degeneration. Proc. Natl Acad. Sci. USA, 102, 18676-18681.
38. Menzies, F.M., Yenisetti, S.C. and Min, K.T. (2005) Roles of Drosophila DJ-1 in survival of dopaminergic neurons and oxidative stress. Curr. Biol., 15, 1578-1582.
39. Meulener, M., Whitworth, A.J., Armstrong-Gold, C.E., Rizzu, P., Heutink, P., Wes, P.D., Pallanck, L.J. and Bonini, N.M. (2005) Drosophila DJ-1 mutants are selectively sensitive to environmental toxins associated with Parkinson's disease. Curr. Biol., 15, 1572-1577.
40. Chen, L., Cagniard, B., Mathews, T., Jones, S., Koh, H.C., Ding, Y., Carvey, P.M., Ling, Z., Kang, U.J. and Zhuang, X. (2005) Age-dependent motor deficits and dopaminergic dysfunction in DJ-1 null mice. J. Biol. Chem., 280, 21418-21426.
41. Petit, A., Kawarai, T., Paitel, E., Sanjo, N., Maj, M., Scheid, M., Chen, F., Gu, Y., Hasegawa, H., Salehi-Rad, S. et al. (2005) Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations. J. Biol. Chem., 280, 34025-34032.
42. Silvestri, L., Caputo, V., Bellacchio, E., Atorino, L., Dallapiccola, B., Valente, E.M. and Casari, G. (2005) Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum. Mol. Genet., 14, 3477-3492.
43. Canet-Aviles, R.M., Wilson, M.A., Miller, D.W., Ahmad, R., McLendon, C., Bandyopadhyay, S., Baptista, M.J., Ringe, D., Petsko, G.A. and Cookson, M.R. (2004) The Parkinson's disease protein DJ-1 is neuroprotective due to cysteme-sulfinic acid-driven mitochondrial localization. Proc. Natl Acad. Sci. USA, 101, 9103-9108.
44. Zhang, L., Shimoji, M., Thomas, B., Moore, D.J., Yu, S.W., Marupudi, N.I., Torp, R., Torgner, I.A., Ottersen, O.P., Dawson, T.M. et al. (2005) Mitochondrial localization of the Parkinson's disease related protein DJ-1: Implications for pathogenesis. Hum. Mol. Genet, 14, 2063-2073.
45. Olzmann, J.A., Brown, K., Wilkinson, K.D., Rees, H.D., Huai, Q., Ke, H., Levey, A.I., Li, L. and Chin, L.S. (2004) Familial Parkinson's disease-associated L166P mutation disrupts DJ-1 protein folding and function. J. Biol. Chem., 279, 8506-8515.
46. Moore, D.J., Zhang, L., Dawson, T.M. and Dawson, V.L. (2003) A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization. J. Neurochem., 87, 1558-1567.
47. Xia, K., Wu, L., Liu, X., Xi, X., Liang, D., Zheng, D., Cai, F., Pan, Q., Long, Z., Dai, H. et al. (2004) Mutation in PITX2 is associated with ring dermoid of the cornea. J. Med. Genet., 41, e129.
48. Zhang, Z., Vuori, K., Reed, J.C. and Ruoslahti, E. (1995) The alpha 5 beta 1 integrin supports survival of cells on fibronectin and up-regulates Bcl-2 expression. Proc. Natl Acad Sci. USA, 92, 6161-6165.
49. Zhang, Z., Hartmann, H., Do, V.M., Abramowski, D., Sturchler-Pierrat, C., Staufenbiel, M., Sommer, B., van de Wetering, M., Clevers, H., Saftig, P. et al. (1998) Destabilization of beta-catenin by mutations in presenilin-1 potentiates neuronal apoptosis. Nature, 395, 698-702.
50. Didier, C., Broday, L., Bhoumik, A., Israeli, S., Takahashi, S., Nakayama, K., Thomas, S.M., Turner, C.E., Henderson, S., Sabe, H. et al. (2093) RNF5, a RING finger protein that regulates cell motility by targeting paxillin ubiquitination and altered localization. Mol. Cell. Biol., 23, 5331-5345.