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Cloning and characterization of the promoter region of the Wilson disease gene.

DC Field Value Language
dc.contributor.authorOh, WJ-
dc.contributor.authorKim, EK-
dc.contributor.authorPark, KD-
dc.contributor.authorHahn, SH-
dc.contributor.authorYoo, OJ-
dc.date.accessioned2011-09-14T04:52:21Z-
dc.date.available2011-09-14T04:52:21Z-
dc.date.issued1999-
dc.identifier.issn0006-291X-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/4148-
dc.description.abstractWilson disease (WD), an autosomal recessive disorder of copper transport, is marked by impaired biliary excretion and incorporation of copper into ceruloplasmin. Molecular mechanism regulating the expression of the WD gene was studied. We isolated, sequenced, and characterized approximately 1.3 kb of the 5'-flanking region of the WD gene from the human genomic library. The approximately 1.3 kb of the WD sequence directed high level of luciferase activity in HepG2 cells. Interestingly, the 5'-flanking region contained four metal response elements (MREs) and six MRE-like sequences (MLSs), usually found in the metallothionein genes. It also contained a number of putative regulatory elements such as Sp1, AP-1, AP-2, and E-box, but lacked TATA box. The transcription start site was located at 335 base pairs upstream of the translation initiation site. Successive 5'-deletion analyses suggested that the 159-base pair region from -811 to -653, which includes MLS2 (-802 to -796) and MLS3 (-785 to -779), contained one or more positive regulatory element(s). A negative element was also identified at region -1038 to -812. A protein-MLS complex was identified through electrophoretic mobility shift and competition assay using MLS2/MLS3 and HepG2 cell nuclear proteins.-
dc.language.isoen-
dc.subject.MESHAmino Acid Sequence-
dc.subject.MESHBase Sequence-
dc.subject.MESHBinding Sites-
dc.subject.MESHCell Line-
dc.subject.MESHDNA Primers-
dc.subject.MESHDNA-Binding Proteins-
dc.subject.MESHGene Expression Regulation-
dc.subject.MESHGenes, Reporter-
dc.subject.MESHHepatolenticular Degeneration-
dc.subject.MESHHumans-
dc.subject.MESHMolecular Sequence Data-
dc.subject.MESHNuclear Proteins-
dc.subject.MESHPromoter Regions, Genetic-
dc.subject.MESHRegulatory Sequences, Nucleic Acid-
dc.subject.MESHSequence Analysis, DNA-
dc.subject.MESHTranscription Factors-
dc.titleCloning and characterization of the promoter region of the Wilson disease gene.-
dc.typeArticle-
dc.identifier.pmid10334941-
dc.identifier.urlhttp://linkinghub.elsevier.com/retrieve/pii/S0006-291X(99)90732-5-
dc.contributor.affiliatedAuthor한, 시훈-
dc.type.localJournal Papers-
dc.identifier.doi10.1006/bbrc.1999.0732-
dc.citation.titleBiochemical and biophysical research communications-
dc.citation.volume259-
dc.citation.number1-
dc.citation.date1999-
dc.citation.startPage206-
dc.citation.endPage211-
dc.identifier.bibliographicCitationBiochemical and biophysical research communications, 259(1). : 206-211, 1999-
dc.identifier.eissn1090-2104-
dc.relation.journalidJ00006291X-
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Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
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