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Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD).

Artikel i vetenskaplig tidskrift
Författare Ulla Rüetschi
Lars Rymo
Sven Lindstedt
Publicerad i Genomics
Volym 44
Nummer/häfte 3
Sidor 292-9
ISSN 0888-7543
Publiceringsår 1997
Publicerad vid Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin
Sidor 292-9
Språk en
Länkar dx.doi.org/10.1006/geno.1997.4887
Ämnesord 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
Ämneskategorier Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci)

Sammanfattning

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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