NDLI: Structure of the human biotinidase gene

Content Provider	Springer Nature Link
Author	Knight, Heath Cole Reylds, Thomas R. Meyers, Gregory A. Pomponio, Robert J. Buck, Gregory A. Wolf, Barry
Copyright Year	1998
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.
Starting Page	327
Ending Page	330
Page Count	4
File Format	PDF
ISSN	09388990
Journal	Mammalian Genome
Volume Number	9
Issue Number	4
e-ISSN	14321777
Language	English
Publisher	Springer-Verlag
Publisher Date	1998-01-01
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Cell Biology Anatomy Zoology
Content Type	Text
Resource Type	Article
Subject	Genetics

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Structure of the human biotinidase gene