Abstract
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.
Original language | English (US) |
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Pages (from-to) | 297-299 |
Number of pages | 3 |
Journal | Neuroscience Letters |
Volume | 382 |
Issue number | 3 |
DOIs | |
State | Published - Jul 15 2005 |
Keywords
- Early-onset parkinsonism
- Genetic analysis
- Parkin co-regulated gene
- Variant
ASJC Scopus subject areas
- Neuroscience(all)