title: Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD).
abstract: 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.
authors.affiliation: Department of Clinical Chemistry and Transfusion Medicine, Göteborg University, Sahlgrenska University Hospital, Sweden. Ulla.Ruetschi@ss.gu.se
authors.forename: U
authors.initials: U
authors.lastname: Rüetschi
authors.forename: L
authors.initials: L
authors.lastname: Rymo
authors.forename: S
authors.initials: S
authors.lastname: Lindstedt
mesh_terms: D015111:4-Hydroxyphenylpyruvate Dioxygenase / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics* / Q000302:isolation & purification; D001483:Base Sequence; D016208:Databases, Factual; D005786:Gene Expression Regulation; D005796:Genes; D006801:Humans; D007668:Kidney / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008969:Molecular Sequence Data; D009928:Organ Specificity / Q000235:genetics; D011401:Promoter Regions, Genetic; D012984:Software; D014158:Transcription, Genetic
chemical_list: D015111:4-Hydroxyphenylpyruvate Dioxygenase