PMID: 9530634Apr 8, 1998Paper

Structure of the human biotinidase gene

Mammalian Genome : Official Journal of the International Mammalian Genome Society
H C KnightB Wolf

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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Citations

Jun 16, 2010·Journal of Inherited Metabolic Disease·Ilona MilánkovicsGyörgy Fekete
Jun 7, 2003·Current Treatment Options in Neurology·Barry Wolf
Apr 3, 2004·Molecular Genetics and Metabolism·Christine M StanleyBarry Wolf
Oct 3, 2002·Molecular Genetics and Metabolism·B WolfJ Sykut-Cegielska
Jan 14, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Barry Wolf
Oct 11, 2008·The Journal of Biological Chemistry·Anylu Pérez-MonjarasAlfonso León-Del-Río
Jun 12, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Tina M CowanUNKNOWN Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee
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Jul 14, 2005·Annual Review of Nutrition·Janos Zempleni
Jun 7, 2007·Proceedings of the National Academy of Sciences of the United States of America·Wilfried WeberMartin Fussenegger
Mar 13, 2010·Journal of Inherited Metabolic Disease·Annika OhlssonUlrika von Döbeln
Sep 4, 2009·Expert Review of Endocrinology & Metabolism·Janos ZempleniSubhashinee Sk Wijeratne
Jan 27, 2016·Molecular Genetics and Metabolism·Melinda ProcterRong Mao
May 16, 2008·The Journal of Nutritional Biochemistry·Keyna A KobzaJanos Zempleni
Jul 17, 2007·Molecular Genetics and Metabolism·Kirit PindoliaBarry Wolf
Dec 23, 2006·Molecular Genetics and Metabolism·Ilona MilánkovicsAgnes Schuler
Jun 18, 2010·Human Mutation·Kirit PindoliaBarry Wolf
Jul 5, 2005·The Journal of Nutritional Biochemistry·Barry Wolf
Jul 5, 2005·The Journal of Nutritional Biochemistry·Nagarama KothapalliJanos Zempleni
Mar 11, 2015·European Journal of Pediatrics·Mehmet KaracaHatice Serap Sivri
Feb 5, 2010·Molecular Genetics and Metabolism·Barry Wolf
Sep 23, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Barry Wolf
Oct 19, 2016·Molecular Genetics and Metabolism Reports·Christian BrigolinBarry Wolf
Jul 7, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Erin T StrovelBarry Wolf
Oct 23, 2001·Human Mutation·J HymesB Wolf
Jul 12, 2018·Journal of Pediatric Endocrinology & Metabolism : JPEM·Ebru CandaMahmut Coker
May 9, 2000·Journal of Inherited Metabolic Disease·R J PomponioB Wolf
May 9, 2000·Journal of Inherited Metabolic Disease·R J PomponioB Wolf
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