Structure of the human ornithine transcarbamylase gene

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

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Abstract

Complementary and genomic DNA clones corresponding to the human ornithine transcarbamylase (OTC) [EC 2.1.3.3] 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.

Original languageEnglish
Pages (from-to)302-308
Number of pages7
JournalJournal of Biochemistry
Volume103
Issue number2
DOIs
Publication statusPublished - Jan 1 1988

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology

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    Hata, A., Tsuzuki, T., Shimada, K., Takiguchi, M., Mori, M., & Matsuda, I. (1988). Structure of the human ornithine transcarbamylase gene. Journal of Biochemistry, 103(2), 302-308. https://doi.org/10.1093/oxfordjournals.jbchem.a122265