title: Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I.
abstract: We isolated a human muscle type of carnitine palmitoyltransferase I (CPTI-M) genomic clone and determined its entire nucleotide sequence. By comparison of the nucleotide sequence of the genomic clone with that of cDNA, we determined the intron/exon junctions. For detection of the exon(s) in the 5'-region of the CPTI-M gene, we isolated cDNA clones corresponding to the 5'-region of its transcript by 5'-rapid amplification of cDNA ends (5'-RACE method). Results showed two alternative exons, 1A and 1B, that do not encode amino acids in the 5'-region of the human CPTI-M gene. The gene encoding human CPTI-M was found to consist of two 5'-non-coding exons, 18 coding exons and one 3'-non-coding exon spanning approximately 10 kbp. Furthermore, on analysis of the 5'-flanking region, a putative gene encoding a 'choline kinase homologue' was found to be located only about 300 bp upstream from exon 1A of the human CPTI-M gene. Comparison of the gene structure of human CPTI-M with the reported partial gene structure of human liver type CPTI (CPTI-L) showed that the intron insertion sites were completely conserved in these two genes.
authors.affiliation: Faculty of Pharmaceutical Sciences, University of Tokushima, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Yamazaki
authors.forename: Y
authors.initials: Y
authors.lastname: Yamanaka
authors.forename: Y
authors.initials: Y
authors.lastname: Hashimoto
authors.forename: Y
authors.initials: Y
authors.lastname: Shinohara
authors.forename: A
authors.initials: A
authors.lastname: Shima
authors.forename: H
authors.initials: H
authors.lastname: Terada
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002334:Carnitine O-Palmitoyltransferase / Q000737:chemistry / Q000235:genetics* / Q000302:isolation & purification; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000302:isolation & purification; D005091:Exons; D005796:Genes; D006801:Humans; D008099:Liver / Q000201:enzymology; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000737:chemistry / Q000201:enzymology*; D016133:Polymerase Chain Reaction; D051381:Rats; D014158:Transcription, Genetic
chemical_list: D018076:DNA, Complementary; D002334:Carnitine O-Palmitoyltransferase