Document Detail


Structure of the human biotinidase gene.
MedLine Citation:
PMID:  9530634     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
H C Knight; T R Reynolds; G A Meyers; R J Pomponio; G A Buck; B Wolf
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Mammalian genome : official journal of the International Mammalian Genome Society     Volume:  9     ISSN:  0938-8990     ISO Abbreviation:  Mamm. Genome     Publication Date:  1998 Apr 
Date Detail:
Created Date:  1998-05-22     Completed Date:  1998-05-22     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9100916     Medline TA:  Mamm Genome     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  327-30     Citation Subset:  IM    
Affiliation:
Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298, USA.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AF018630;  AF018631
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MeSH Terms
Descriptor/Qualifier:
Amidohydrolases / genetics*
Base Sequence
Biotinidase
DNA, Complementary
Exons
Humans
Introns
Molecular Sequence Data
Polymerase Chain Reaction
Grant Support
ID/Acronym/Agency:
DK33022/DK/NIDDK NIH HHS
Chemical
Reg. No./Substance:
0/DNA, Complementary; EC 3.5.-/Amidohydrolases; EC 3.5.1.12/Biotinidase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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