The genomic structure and promoter region of the human parkin gene

Biochem Biophys Res Commun. 2001 Sep 7;286(5):863-8. doi: 10.1006/bbrc.2001.5490.

Abstract

Parkin has been identified as a causative gene of the autosomal recessive juvenile parkinsonism (AR-JP). In this study, we determined the genomic structure of the Parkin gene and identified a core promoter region based on the DNA sequence of 1.4 Mb. The 5'-flanking region contained no apparent TATA or CAAT box elements but several putative cis-elements for various transcription factors. The GC- and CpG-rich regions were observed not only in the 5'-flanking sequence but also in the 5'-part of the first intron of Parkin. We identified an exact starting point of Parkin transcription. A core promoter region was determined by transfecting a series of deletion constructs with a dual luciferase reporter system into human neuroblastoma cells. Furthermore, we located a neighboring novel gene in a head-to-head direction with Parkin with only a 198-bp interval.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Brain / metabolism
  • CpG Islands
  • Cytosine / chemistry
  • DNA, Complementary / metabolism
  • Exons
  • Gene Deletion
  • Gene Library
  • Genes, Reporter
  • Guanine / chemistry
  • Humans
  • Luciferases / metabolism
  • Models, Genetic
  • Molecular Sequence Data
  • Muscle, Skeletal / metabolism
  • Mutagenesis
  • Mutation
  • Promoter Regions, Genetic*
  • Software
  • Transfection

Substances

  • DNA, Complementary
  • Guanine
  • Cytosine
  • Luciferases