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.
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The nucleotide sequence data reported in this paper have been submitted to GenBank and have been assigned the accession numbers AF018630 and AF018631.
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Knight, H.C., Reynolds, T.R., Meyers, G.A. et al. Structure of the human biotinidase gene. Mammalian Genome 9, 327–330 (1998). https://doi.org/10.1007/s003359900760
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DOI: https://doi.org/10.1007/s003359900760