Structure of the human biotinidase gene

Heath Cole Knight, Thomas R. Reynolds, Gregory A. Meyers, Robert J. Pomponio, Gregory A. Buck, Barry Wolf*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

53 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)327-330
Number of pages4
JournalMammalian Genome
Issue number4
StatePublished - Apr 1 1998

ASJC Scopus subject areas

  • Genetics

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