Structure of the human ornithine transcarbamylase gene

Akira Hata, Teruhisa Tsuzuki, Kazunori Shimada, Masaki Takiguchi, Masataka Mori, Ichiro Matsuda

研究成果: Contribution to journalArticle査読

99 被引用数 (Scopus)


Complementary and genomic DNA clones corresponding to the human ornithine transcarbamylase (OTC) [EC] mRNA have been isolated and analyzed. The OTC gene is about 73 kilobase pairs (kb) long and contains 10 exons interrupted by 9 introns of highly variable sizes. The smallest intron is 80 base pairs and the largest, 21.7 kb. The 5'- and 3'-flanking regions, entire exons and all the exon/intron boundaries were sequenced. The nucleotide and deduced amino acid sequences of isolated OTC cDNAs as well as the corresponding regions of the genomic DNA were compared with those of human OTC cDNA (Horwich, A.L., Fenton, W.A., Williams, K.R., Kalousek, F., Kraus, J.P., Doolittle, R.F., Koningsberg, W., & Rosenberg, L.E. (1984) Science 224, 1068-1074). We found 20 nucleotide substitutions among these sequences, of which 6 related to amino acid changes. The nature of these nucleotide substitutions is discussed.

ジャーナルJournal of Biochemistry
出版ステータス出版済み - 1 1 1988

All Science Journal Classification (ASJC) codes

  • 生化学
  • 分子生物学


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