The Human Protoporphyrinogen Oxidase Gene (PPOX): Organization and Location to Chromosome 1

• Published in: Genomics (San Diego, Calif.) Vol. 29; no. 3; pp. 698 - 703
• Main Authors: TAKETANI, SHIGERU, INAZAWA, JOHJI, ABE, TATSUO, FURUKAWA, TAKAKO, KOHNO, HIRAO, TOKUNAGA, RIKIO, NISHIMURA, KOICHI, INOKUCHI, HACHIRO
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 10.10.1995; Elsevier
• Subjects: Bacteriophage lambda; Base Sequence; Biological and medical sciences; Blotting, Southern; Chromosome Banding; Chromosome Mapping; Chromosomes, Human, Pair 1; Cloning, Molecular; DNA Primers; DNA, Complementary; Exons; Flavoproteins; Fundamental and applied biological sciences. Psychology; Genes. Genome; Genomic Library; Humans; In Situ Hybridization, Fluorescence; Introns; Karyotyping; Mitochondrial Proteins; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; Oxidoreductases - biosynthesis; Oxidoreductases - genetics; Oxidoreductases Acting on CH-CH Group Donors; Polymerase Chain Reaction; Protoporphyrinogen Oxidase; Regulatory Sequences, Nucleic Acid; Restriction Mapping; Genetic mapping; Human; Nucleotide sequence; Enzyme; Transcription promoter; Homology; Gene organization; Biosynthesis; Gene; Protoporphyrinogen oxidase; Heme; Chromosome DNA; Oxidoreductases; A1-Chromosome
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1995.9949

We determined the structure of the human protoporphyrinogen oxidase (PPOX) gene after isolation and characterization of lambda phage clones mapping discrete regions of the cDNA. Southern blotting of human genomic DNA showed that there is a single copy of the PPOX gene, and fluorescencein situhybridization to metaphase chromosomes mapped the gene to region 1q22. The gene has 13 exons and about 8 kb. The exon/intron boundary sequences conform to consensus acceptor (GTn) and donor (nAG) sequences, and exons in the gene appear to encode functional protein domains. Primer extension analysis revealed two major transcriptional initiation sites in a region with sequence motifs characteristic of a promoter. The promoter region contains multiple Sp1 elements, CCAAT boxes, and potential GATA-1 binding sites. Mapping of the 5′ end PPOX mRNA by polymerase chain reaction indicated that there are the same transcripts in erythroid and nonerythroid cells.