DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism.
Four chromosomal loci ( PARK2, PARK6, PARK7, and PARK9) associated with autosomal recessive, early onset parkinsonism are known. We mapped the PARK7 locus to chromosome 1p36 in a large family from a genetically isolated population in the Netherlands, and confirmed this linkage in an Italian family. By positional cloning within the refined PARK7 critical region we recently identified mutations in the DJ-1 gene in the two PARK7-linked families. The function of DJ-1 remains largely unknown, but evidence from genetic studies on the yeast DJ-1 homologue, and biochemical studies in murine and human cell lines, suggests a role for DJ-1 as an antioxidant and/or a molecular chaperone. Elucidating the role of DJ-1 will lead to a better understanding of the pathogenesis of DJ-1-related and common forms of Parkinson's disease.
Bonifati
V
V
Department of Clinical Genetics, Erasmus Medical Center Rotterdam, 1738 DR Rotterdam, The Netherlands.
Rizzu
P
P
Squitieri
F
F
Krieger
E
E
Vanacore
N
N
van Swieten
J C
JC
Brice
A
A
van Duijn
C M
CM
Oostra
B
B
Meco
G
G
Heutink
P
P
D002878:Chromosomes, Human, Pair 1; D004252:DNA Mutational Analysis; D005192:Family Health; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D009154:Mutation; D015513:Oncogene Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics*; D000071617:Protein Deglycase DJ-1
D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1