title: Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5'-end region.
abstract: We isolated over 20 phage clones carrying the ornithine transcarbamylase (OTC) [EC 2.1.3.3] gene, from two independently constructed human genomic DNA libraries, using as probes either a rat OTC cDNA or several nuclear DNA fragments derived from some of these isolated clones. These clones, classified into 10 different groups, overlapped and spanned a region of more than 85 kilobase pairs of the human genomic DNA. Restriction mapping and Southern blot analyses demonstrated that one of the clones covers the 5'-end region of the OTC gene. We sequenced the 5'-end region of the OTC gene and found that it covered 665 base pairs of the 5'-flanking region, the complete first exon and a part of the first intron (150 base pairs). In the 5'-flanking region, there were two pairs of putative CAAT and TATA boxes and one enhancer core-like sequence, GTGGAAAG. The first exon contained a coding region for most of the OTC presequence, i.e. 26 out of 32 amino acid residues of the presequence, including the initiation methionine.
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis*; D005796:Genes; D006801:Humans; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: D004247:DNA; D009954:Ornithine Carbamoyltransferase