Genetic analysis of parkin co-regulated gene (PACRG) in patients with early-onset parkinsonism

Hao Deng; Wei Dong Le; Wen Jie Xie; Tian Hong Pan; Xiong Zhang; Joseph Jankovic

doi:10.1016/j.neulet.2005.03.034

Genetic analysis of parkin co-regulated gene (PACRG) in patients with early-onset parkinsonism

Hao Deng, Wei Dong Le, Wen Jie Xie, Tian Hong Pan, Xiong Zhang, Joseph Jankovic

Surgical Oncology

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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)
Pages (from-to)	297-299
Number of pages	3
Journal	Neuroscience Letters
Volume	382
Issue number	3
DOIs	https://doi.org/10.1016/j.neulet.2005.03.034
State	Published - Jul 15 2005

Keywords

Early-onset parkinsonism
Genetic analysis
Parkin co-regulated gene
Variant

ASJC Scopus subject areas

General Neuroscience

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10.1016/j.neulet.2005.03.034

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title = "Genetic analysis of parkin co-regulated gene (PACRG) in patients with early-onset parkinsonism",

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.",

keywords = "Early-onset parkinsonism, Genetic analysis, Parkin co-regulated gene, Variant",

author = "Hao Deng and Le, {Wei Dong} and Xie, {Wen Jie} and Pan, {Tian Hong} and Xiong Zhang and Joseph Jankovic",

note = "Funding Information: This project was supported by the grant no. 043567 from the National Institute of Neurological Disorders and Stroke.",

year = "2005",

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doi = "10.1016/j.neulet.2005.03.034",

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AU - Deng, Hao

AU - Le, Wei Dong

AU - Xie, Wen Jie

AU - Pan, Tian Hong

AU - Zhang, Xiong

AU - Jankovic, Joseph

N1 - Funding Information: This project was supported by the grant no. 043567 from the National Institute of Neurological Disorders and Stroke.

PY - 2005/7/15

Y1 - 2005/7/15

N2 - 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.

AB - 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.

KW - Early-onset parkinsonism

KW - Genetic analysis

KW - Parkin co-regulated gene

KW - Variant

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Genetic analysis of parkin co-regulated gene (PACRG) in patients with early-onset parkinsonism

Abstract

Keywords

ASJC Scopus subject areas

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