title: The genomic structure and promoter region of the human parkin gene.
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.
authors.affiliation: Department of Molecular Biology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Asakawa
authors.lastname: Tsunematsu Ki
authors.forename: A
authors.initials: A
authors.lastname: Takayanagi
authors.forename: T
authors.initials: T
authors.lastname: Sasaki
authors.forename: A
authors.initials: A
authors.lastname: Shimizu
authors.forename: A
authors.initials: A
authors.lastname: Shintani
authors.forename: K
authors.initials: K
authors.lastname: Kawasaki
authors.forename: A J
authors.initials: AJ
authors.lastname: Mungall
authors.forename: S
authors.initials: S
authors.lastname: Beck
authors.forename: S
authors.initials: S
authors.lastname: Minoshima
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
mesh_terms: D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D018899:CpG Islands; D003596:Cytosine / Q000737:chemistry; D018076:DNA, Complementary / Q000378:metabolism; D005091:Exons; D017353:Gene Deletion; D015723:Gene Library; D017930:Genes, Reporter; D006147:Guanine / Q000737:chemistry; D006801:Humans; D008156:Luciferases / Q000378:metabolism; D008957:Models, Genetic; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000378:metabolism; D016296:Mutagenesis; D009154:Mutation; D011401:Promoter Regions, Genetic; D012984:Software; D014162:Transfection
chemical_list: D018076:DNA, Complementary; D006147:Guanine; D003596:Cytosine; D008156:Luciferases