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J. Biochem, 1988, Vol. 103, No. 2 302-308
© 1988 Japanese Biochemical Society


research-article

Structure of the Human Ornithine Transcarbamylase Gene1

Akira Hata*,**, Teruhisa Tsuzuki*, Kazunori Shimada*,2, Masaki Takiguchi***, Masataka Mori*** and Ichiro Matsuda**

* Department of Biochemistry, Kumamoto University Medical School Kumamoto, Kumamoto 860
** Department of Pediatrics, Kumamoto University Medical School Kumamoto, Kumamoto 860
*** Institute for Medical Genetics, Kumamoto University Medical School Kumamoto, Kumamoto 860

2To whom correspondence should be addressed.

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.

1This work was supported by grants from the Ministry of Education, Science and Culture and the Ministry of Health and Welfare of Japan.


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