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pubmed-article:9530634pubmed:abstractTextBiotinidase cleaves biotin from biocytin, thereby recycling the vitamin. We have determined the structure of the human biotinidase gene. A genomic clone, containing three exons that code for the mature enzyme, was obtained by screening a human genomic bacteriophage library with the biotinidase cDNA by plaque hybridization. To obtain a clone containing the most 5' exon of the biotinidase cDNA, a human PAC library by PCR was screened. The human biotinidase gene is organized into four exons and spans at least 23 kb. The 5'-flanking region of exon 1 contains a CCAAT element, three initiator sequences, an octamer sequence, three methylation consensus sites, two GC boxes, and one HNF-5 site, but has no TATA element. The region from nt -600 to +400 has features of a CpG island and resembles a housekeeping gene promoter. The structure and sequence of this gene are useful for identifying and characterizing mutations that cause biotinidase deficiency.lld:pubmed
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pubmed-article:9530634pubmed:pagination327-30lld:pubmed
pubmed-article:9530634pubmed:dateRevised2007-11-14lld:pubmed
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pubmed-article:9530634pubmed:year1998lld:pubmed
pubmed-article:9530634pubmed:articleTitleStructure of the human biotinidase gene.lld:pubmed
pubmed-article:9530634pubmed:affiliationDepartment of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298, USA.lld:pubmed
pubmed-article:9530634pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:9530634pubmed:publicationTypeResearch Support, U.S. Gov't, P.H.S.lld:pubmed
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