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Identification and characterization of the human parkin gene promoter.

Publication ,  Journal Article
West, A; Farrer, M; Petrucelli, L; Cookson, M; Lockhart, P; Hardy, J
Published in: J Neurochem
September 2001

Compound mutations and homozygous loss of function of the parkin gene causes juvenile and early onset, autosomal recessive parkinsonism. Pathologically, the disease is associated with loss of dopaminergic neurons in the substantia nigra pars compacta and locus ceruleus, usually without Lewy body pathology. Hemizygous families have been described that may harbor mutations outside of the open reading frame. The parkin gene promoter has yet to be characterized, and therein, mutations in hemizygous families may plausibly be identified. To identify the promoter of the parkin gene, the transcription start site was defined by a combination of primer extension and 5' RACE. Five kilobases of DNA 5' to the parkin start codon were directly sequenced from a BAC containing parkin exon 1 and evaluated for promoter motifs. The parkin promoter lacks TATA or CAAT boxes and appears to share homology to the alpha-synuclein promoter. Deletion constructs demonstrated core promoter activity and tissue specific enhancing regions in HEK-293T and SH-SY5Y cells.

Duke Scholars

Published In

J Neurochem

DOI

ISSN

0022-3042

Publication Date

September 2001

Volume

78

Issue

5

Start / End Page

1146 / 1152

Location

England

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • Transcriptional Activation
  • Sequence Analysis, DNA
  • Promoter Regions, Genetic
  • Parkinson Disease
  • Neurology & Neurosurgery
  • Molecular Sequence Data
  • Ligases
  • Humans
  • Gene Expression Regulation
 

Citation

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West, A., Farrer, M., Petrucelli, L., Cookson, M., Lockhart, P., & Hardy, J. (2001). Identification and characterization of the human parkin gene promoter. J Neurochem, 78(5), 1146–1152. https://doi.org/10.1046/j.1471-4159.2001.00512.x
West, A., M. Farrer, L. Petrucelli, M. Cookson, P. Lockhart, and J. Hardy. “Identification and characterization of the human parkin gene promoter.J Neurochem 78, no. 5 (September 2001): 1146–52. https://doi.org/10.1046/j.1471-4159.2001.00512.x.
West A, Farrer M, Petrucelli L, Cookson M, Lockhart P, Hardy J. Identification and characterization of the human parkin gene promoter. J Neurochem. 2001 Sep;78(5):1146–52.
West, A., et al. “Identification and characterization of the human parkin gene promoter.J Neurochem, vol. 78, no. 5, Sept. 2001, pp. 1146–52. Pubmed, doi:10.1046/j.1471-4159.2001.00512.x.
West A, Farrer M, Petrucelli L, Cookson M, Lockhart P, Hardy J. Identification and characterization of the human parkin gene promoter. J Neurochem. 2001 Sep;78(5):1146–1152.
Journal cover image

Published In

J Neurochem

DOI

ISSN

0022-3042

Publication Date

September 2001

Volume

78

Issue

5

Start / End Page

1146 / 1152

Location

England

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • Transcriptional Activation
  • Sequence Analysis, DNA
  • Promoter Regions, Genetic
  • Parkinson Disease
  • Neurology & Neurosurgery
  • Molecular Sequence Data
  • Ligases
  • Humans
  • Gene Expression Regulation