Genetic analysis of parkin co-regulated gene (PACRG) in patients with early-onset parkinsonism.
Parkin co-regulated gene (PACRG) is a recently identified gene which is transcriptionally co-regulated with parkin gene (PRKN) by a shared bidirectional promoter. To determine whether early-onset parkinsonism (EOP) is associated with PACRG mutation, we screened 112 patients with EOP and found three nucleotide variants: (1) T>C transition in intron 2 (nt 87004; NT_007422), (2) C>T transition (L214L) in exon 6 (nt 585706; NT_007422), and (3) T>A substitution in intron 5 (nt 585630; NT_007422), located 18 bp upstream from exon 6. Since none of these variations appear to be pathogenically relevant, our results suggest that mutation of PACRG plays little or no role in the development of EOP.
Deng
Hao
H
Department of Neurology, Baylor College of Medicine, 6501 Fannin Street, Houston, TX 77030, USA.
Le
Wei-Dong
WD
Xie
Wen-Jie
WJ
Pan
Tian-Hong
TH
Zhang
Xiong
X
Jankovic
Joseph
J
D000328:Adult; D017668:Age of Onset; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005260:Female; D006801:Humans; D008297:Male; D008840:Microfilament Proteins; D018832:Molecular Chaperones; D020734:Parkinsonian Disorders / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*
D017931:DNA Primers; D008840:Microfilament Proteins; D018832:Molecular Chaperones; C471711:PACRG protein, human; D011506:Proteins