Differential expression of the parkin gene in the human brain and peripheral leukocytes

  • Sunada Y
  • Saito F
  • Matsumura K
 et al. 
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Molecular cloning of the responsible gene on chromosome 6q25.2-27 for autosomal recessive juvenile parkinsonism {(AR-JP)} identified a novel protein of unknown function, named parkin. In patients with {AR-JP,} deletions most commonly involve exons 3-5 in the parkin gene. For mutation screening we tried to analyze the parkin transcript amplified by {RT-PCR.} Based on the assumption that illegitimate transcription of the parkin gene may occur in every cell type, we successfully amplified the parkin message from human peripheral leukocytes using {RT-PCR.} The parkin transcript in leukocytes was smaller in size than the full- length transcript in the brain. {DNA} sequencing determined that exons 3- 5 were spliced out in the normal human leukocyte transcript. Our results demonstrate that alternative splicing produces distinct parkin transcripts in different tissues. Moreover, physiological splicing of deletion-prone exons may provide an important clue to understanding the pathogenesis of {AR-JP.}

Author-supplied keywords

  • Brain/*metabolism Chromosome Mapping {*Chromosomes

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  • Y Sunada

  • F Saito

  • K Matsumura

  • T Shimizu

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