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Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD).

Journal article
Authors Ulla Rüetschi
Lars Rymo
Sven Lindstedt
Published in Genomics
Volume 44
Issue 3
Pages 292-9
ISSN 0888-7543
Publication year 1997
Published at Institute of Laboratory Medicine, Dept of Clinical Chemistry/Transfusion Medicine
Pages 292-9
Language en
Keywords 4-Hydroxyphenylpyruvate Dioxygenase, biosynthesis, chemistry, genetics, isolation & purification, Base Sequence, Databases, Factual, Gene Expression Regulation, Genes, Humans, Kidney, enzymology, Liver, enzymology, Molecular Sequence Data, Organ Specificity, genetics, Promoter Regions, Genetic, Software, Transcription, Genetic
Subject categories Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy)


Overlapping DNA fragments spanning approximately 21 kb of genomic DNA and encompassing the human 4-hydroxyphenylpyruvate dioxygenase gene (HPD) have been cloned by screening a human leukocyte genomic library and by PCR amplification of human fibroblastic DNA. A continuous gene sequence of 20,890 nucleotides was established, including 1957 bp of the 5'-flanking region. The 4-hydroxyphenylpyruvate dioxygenase gene is composed of 14 exons interrupted by 13 introns, all exhibiting conventional vertebrate splicing. Computer analysis of the DNA sequence revealed 12 complete repetitive Alu elements, 1 in the 5'-flanking region and 11 in the intervening segments of the gene. The transcriptional initiation site was mapped to a position 35 nt upstream of the translational start point. The computer analysis also identified several potential transcription regulatory elements, including one CRE site, two AP-2 sites, and two Sp1 sites, in the sequence upstream of the transcription initiation site. Functional analysis of promoter activity by transient transfection of chloramphenicolacetyl transferase reporter plasmids revealed a possible involvement of cyclic adenosine monophosphate in the regulation of transcription. The highest level of expression of 4-hydroxyphenylpyruvate dioxygenase was found in human liver tissue as demonstrated by Northern blot analysis.

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