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Published Online November 21, 2002
Science DOI: 10.1126/science.1077209

Reports

Submitted on August 9, 2002
Accepted on November 11, 2002

Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism

Vincenzo Bonifati 1*, Patrizia Rizzu 2, Marijke J. van Baren 2, Onno Schaap 2, Guido J. Breedveld 2, Elmar Krieger 3, Marieke C. J. Dekker 2, Ferdinando Squitieri 4, Pablo Ibanez 5, Marijke Joosse 2, Jeroen W. van Dongen 2, Nicola Vanacore 6, John C. van Swieten 7, Alexis Brice 5, Giuseppe Meco 8, Cornelia M. van Duijn 2, Ben A. Oostra 2, Peter Heutink 2*

1 Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, The Netherlands; Department of Neurological Sciences, "La Sapienza" University, Viale dell'Università 30, 00185 Rome, Italy.
2 Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology & Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, The Netherlands.
3 Centre for Molecular and Biomolecular Informatics, University Medical Center Nijmegen, Geert Grooteplein Zuid 30, 6525 GA Nijmegen, The Netherlands.
4 Neurogenetics Unit, IRCCS INM Neuromed, Località Camerelle, 86077 Pozzilli, Italy.
5 INSERM U 289, Hôpital de la Salpêtrière, 47 Boulevard de l'Hôpital, 75013 Paris, France.
6 Department of Neurological Sciences, "La Sapienza" University, Viale dell'Università 30, 00185 Rome, Italy; Laboratory of Epidemiology and Biostatistics, National Institute for Health, 00161 Roma, Italy.
7 Department of Neurology, Erasmus Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.
8 Department of Neurological Sciences, "La Sapienza" University, Viale dell'Università 30, 00185 Rome, Italy.

* To whom correspondence should be addressed. E-mail: bonifati{at}kgen.fgg.eur.nl, heutink{at}kgen.fgg.eur.nl.

The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism. The function of the DJ-1 protein remains unknown, but evidence suggests its involvement in the oxidative stress response. Our findings indicate that loss of DJ-1 function leads to neurodegeneration. Elucidating the physiological role of DJ-1 protein may promote understanding of the mechanisms of brain neuronal maintenance and pathogenesis of Parkinson's disease.


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LRRK2 gene in Parkinson disease: Mutation analysis and case control association study.
C. Paisan-Ruiz, A. E. Lang, T. Kawarai, C. Sato, S. Salehi-Rad, G. K. Fisman, T. Al-Khairallah, P. St George-Hyslop, A. Singleton, and E. Rogaeva (2005)
Neurology 65, 696-700
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Accumulation of the Authentic Parkin Substrate Aminoacyl-tRNA Synthetase Cofactor, p38/JTV-1, Leads to Catecholaminergic Cell Death.
H. S. Ko, R. von Coelln, S. R. Sriram, S. W. Kim, K. K. K. Chung, O. Pletnikova, J. Troncoso, B. Johnson, R. Saffary, E. L. Goh, et al. (2005)
J. Neurosci. 25, 7968-7978
   Abstract »    Full Text »    PDF »
Superoxide Dismutase/Catalase Mimetics Are Neuroprotective against Selective Paraquat-mediated Dopaminergic Neuron Death in the Substantial Nigra: IMPLICATIONS FOR PARKINSON DISEASE.
J. Peng, F. F. Stevenson, S. R. Doctrow, and J. K. Andersen (2005)
J. Biol. Chem. 280, 29194-29198
   Abstract »    Full Text »    PDF »
Mitochondrial localization of the Parkinson's disease related protein DJ-1: implications for pathogenesis.
L. Zhang, M. Shimoji, B. Thomas, D. J. Moore, S.-W. Yu, N. I. Marupudi, R. Torp, I. A. Torgner, O. P. Ottersen, T. M. Dawson, et al. (2005)
Hum. Mol. Genet. 14, 2063-2073
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Interaction of DJ-1 with Daxx inhibits apoptosis signal-regulating kinase 1 activity and cell death.
E. Junn, H. Taniguchi, B. S. Jeong, X. Zhao, H. Ichijo, and M. M. Mouradian (2005)
PNAS 102, 9691-9696
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Cell type-specific gene expression of midbrain dopaminergic neurons reveals molecules involved in their vulnerability and protection.
C. Y. Chung, H. Seo, K. C. Sonntag, A. Brooks, L. Lin, and O. Isacson (2005)
Hum. Mol. Genet. 14, 1709-1725
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Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
Y. Li, H. Tomiyama, K. Sato, Y. Hatano, H. Yoshino, M. Atsumi, M. Kitaguchi, S. Sasaki, S. Kawaguchi, H. Miyajima, et al. (2005)
Neurology 64, 1955-1957
   Abstract »    Full Text »    PDF »
Age-dependent Motor Deficits and Dopaminergic Dysfunction in DJ-1 Null Mice.
L. Chen, B. Cagniard, T. Mathews, S. Jones, H. C. Koh, Y. Ding, P. M. Carvey, Z. Ling, U. J. Kang, and X. Zhuang (2005)
J. Biol. Chem. 280, 21418-21426
   Abstract »    Full Text »    PDF »
Neurogenetics II: complex disorders.
A F Wright (2005)
J. Neurol. Neurosurg. Psychiatry 76, 623-631
   Abstract »    Full Text »    PDF »
The Parkinson's disease-associated DJ-1 protein is a transcriptional co-activator that protects against neuronal apoptosis.
J. Xu, N. Zhong, H. Wang, J. E. Elias, C. Y. Kim, I. Woldman, C. Pifl, S. P. Gygi, C. Geula, and B. A. Yankner (2005)
Hum. Mol. Genet. 14, 1231-1241
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DJ-1-/- Mice.
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Sci. Aging Knowl. Environ. 2005, tg3
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Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability.
A. Beilina, M. Van Der Brug, R. Ahmad, S. Kesavapany, D. W. Miller, G. A. Petsko, and M. R. Cookson (2005)
PNAS 102, 5703-5708
   Abstract »    Full Text »    PDF »
Hypersensitivity of DJ-1-deficient mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyrindine (MPTP) and oxidative stress.
R. H. Kim, P. D. Smith, H. Aleyasin, S. Hayley, M. P. Mount, S. Pownall, A. Wakeham, A. J. You-Ten, S. K. Kalia, P. Horne, et al. (2005)
PNAS 102, 5215-5220
   Abstract »    Full Text »    PDF »
Human Ran Cysteine 112 Oxidation by Pervanadate Regulates Its Binding to Keratins.
G.-Z. Tao, Q. Zhou, P. Strnad, M. R. Salemi, Y. M. Lee, and M. B. Omary (2005)
J. Biol. Chem. 280, 12162-12167
   Abstract »    Full Text »    PDF »
RING Finger Ubiquitin-Protein Isopeptide Ligase Nrdp1/FLRF Regulates Parkin Stability and Activity.
L. Zhong, Y. Tan, A. Zhou, Q. Yu, and J. Zhou (2005)
J. Biol. Chem. 280, 9425-9430
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Parkinson's disease: the first common neurological disease due to auto-intoxication?.
A.C. Williams, L.S. Cartwright, and D.B. Ramsden (2005)
QJM 98, 215-226
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Molecular Pathogenesis of Parkinson Disease.
J. L. Eriksen, Z. Wszolek, and L. Petrucelli (2005)
Arch Neurol 62, 353-357
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Aggregation promoting C-terminal truncation of {alpha}-synuclein is a normal cellular process and is enhanced by the familial Parkinson's disease-linked mutations.
W. Li, N. West, E. Colla, O. Pletnikova, J. C. Troncoso, L. Marsh, T. M. Dawson, P. Jakala, T. Hartmann, D. L. Price, et al. (2005)
PNAS 102, 2162-2167
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Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress.
D. J. Moore, L. Zhang, J. Troncoso, M. K. Lee, N. Hattori, Y. Mizuno, T. M. Dawson, and V. L. Dawson (2005)
Hum. Mol. Genet. 14, 71-84
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Analysis of the PINK1 Gene in a Large Cohort of Cases With Parkinson Disease.
E. Rogaeva, J. Johnson, A. E. Lang, C. Gulick, K. Gwinn-Hardy, T. Kawarai, C. Sato, A. Morgan, J. Werner, R. Nussbaum, et al. (2004)
Arch Neurol 61, 1898-1904
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