title: Structure of the human biotinidase gene.
abstract: Biotinidase 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.
authors.affiliation: Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298, USA.
authors.forename: H C
authors.initials: HC
authors.lastname: Knight
authors.forename: T R
authors.initials: TR
authors.lastname: Reynolds
authors.forename: G A
authors.initials: GA
authors.lastname: Meyers
authors.forename: R J
authors.initials: RJ
authors.lastname: Pomponio
authors.forename: G A
authors.initials: GA
authors.lastname: Buck
authors.forename: B
authors.initials: B
authors.lastname: Wolf
mesh_terms: D000581:Amidohydrolases / Q000235:genetics*; D001483:Base Sequence; D043523:Biotinidase; D018076:DNA, Complementary; D005091:Exons; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
chemical_list: D018076:DNA, Complementary; D000581:Amidohydrolases; D043523:Biotinidase