title: Differential expression of the parkin gene in the human brain and peripheral leukocytes.
abstract: 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.
authors.affiliation: Department of Neurology and Neuroscience, Teikyo University School of Medicine, Tokyo, Japan. y-sunada@med.teikyo-u.ac.jp
authors.forename: Y
authors.initials: Y
authors.lastname: Sunada
authors.forename: F
authors.initials: F
authors.lastname: Saito
authors.forename: K
authors.initials: K
authors.lastname: Matsumura
authors.forename: T
authors.initials: T
authors.lastname: Shimizu
mesh_terms: D001921:Brain / Q000378:metabolism*; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D003001:Cloning, Molecular; D005091:Exons; D005786:Gene Expression Regulation; D005808:Genes, Recessive; D006801:Humans; D007962:Leukocytes / Q000378:metabolism*; D008025:Ligases; D009928:Organ Specificity; D010300:Parkinson Disease / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion; D014158:Transcription, Genetic; D044767:Ubiquitin-Protein Ligases
chemical_list: D011506:Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases