Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male
Atsushi Nishiyori
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume 830, Japan
Search for more papers by this authorCorresponding Author
Dr. Makoto Yoshino
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume 830, Japan
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume 830, JapanSearch for more papers by this authorYoshifumi Tananari
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume 830, Japan
Search for more papers by this authorToshinobu Matsuura
Department of Pediatrics, Kumamoto University School of Medicine, 1-1-1 Honjo, Japan
Search for more papers by this authorRyuuji Hoshide
Department of Pediatrics, Kumamoto University School of Medicine, 1-1-1 Honjo, Japan
Search for more papers by this authorIchiro Mastuda
Department of Pediatrics, Kumamoto University School of Medicine, 1-1-1 Honjo, Japan
Search for more papers by this authorMasataka Mori
Department of Molecular Genetics, Kumamoto University School of Medicine, Kumamoto 862, Japan
Search for more papers by this authorHirohisa Kato
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume 830, Japan
Search for more papers by this authorAtsushi Nishiyori
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume 830, Japan
Search for more papers by this authorCorresponding Author
Dr. Makoto Yoshino
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume 830, Japan
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume 830, JapanSearch for more papers by this authorYoshifumi Tananari
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume 830, Japan
Search for more papers by this authorToshinobu Matsuura
Department of Pediatrics, Kumamoto University School of Medicine, 1-1-1 Honjo, Japan
Search for more papers by this authorRyuuji Hoshide
Department of Pediatrics, Kumamoto University School of Medicine, 1-1-1 Honjo, Japan
Search for more papers by this authorIchiro Mastuda
Department of Pediatrics, Kumamoto University School of Medicine, 1-1-1 Honjo, Japan
Search for more papers by this authorMasataka Mori
Department of Molecular Genetics, Kumamoto University School of Medicine, Kumamoto 862, Japan
Search for more papers by this authorHirohisa Kato
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume 830, Japan
Search for more papers by this author
References
- Brown GWJ, Cohen PP (1959) Comparative biochemistry of urea synthesis. J Biol Chem 234: 1769–1774.
- Chen C, Okayama H (1987) High efficiency transformation of mammalian cells by plasmid DNA. Mol Cell Biol 7: 2745–2752.
- Finkelstein JE, Hauser ER, Leonard CO, Brusilow SW (1990) Late-onset ornithine transcarbamylase deficiency in male patients. J Pediatr 117: 897–902.
- Hata A, Tsuzuki T, Shimada K, Takiguchi M, Mori M, Matsuda I (1988) Structure of the human ornithine transcarbamylase gene. J Biochem 103: 302–308.
- Herbomel P, Bourachot B, Yaniv M (1984) Two distinct enhancers with different cell specificities coexist in the regulatory region of polyoma. Cell 39: 653–663.
- Horwich AL, Fenton WA, Williams KR, Kalousek F, Kraus JP, Doolittle RF, Konigsberg W, Rosenberg LE (1984) Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Science 224: 1068–1074.
- Kraus JP, Hodges PE, Williamson CL, Horwich AL, Kalousek F, Williams KR, Rosenberg LE (1985) A cDNA clone for the precursor of rat mitochondrial ornithine transcarbamylase: Comparison of rat and human leader sequences and conservation of catalytic sites. Nucleic Acids Res 13: 943–953.
- Landt O, Grunert HP and Hahun U (1990) A general method for rapid site-directed mutagenesis using the polymerase chain reaction. Gene 96: 125–128.
- Matsuura T, Hoshide R, Setoyama C, Shimada K, Hase Y, Yanagawa T, Kajita M, Matsuda I (1993) For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: Application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns. Hum Genet 92: 49–56.
- Mori M, Uchiyama C, Miura S, Tatibana M, Nagayama E (1980) Ornithine carbamoyltransferase deficiency: Coexistence of active and inactive forms of enzyme. Clin Chim Acta 104: 291–299.
- Timm J, Van Rompaey I, Tricot C, Massaer M, Haeseleer F, Fauconnier A, Stalon V, Bollen A, Jacobs P (1992) Molecular cloning, characterization and purification of ornithine carbamoyltransferase from Mycobacterium bovis BCG. Mol Gen Genet 234: 475–480.
- Tuchman M, Morizono H, Reish O, Allewell Yuan Xiaoling NM (1995) The molecular basis of ornithine transcarbamylase deficiency: Modelling the human enzyme and the effects of mutations. J Med Genet 32: 680–688.
- Veres G, Gibbs RA, Scherer SE, Caskey CT (1987) The molecular basis of the sparse fur mouse mutation. Science 237: 415–417.
- Yoshino M, Nishiyori A, Yamashita F, Abe H, Tanikawa K, Ohno T, Nakao K, Kaku N, Fukushima H, Kubota K (1990) Ornithine transcarbamylase deficiency in male adolescence and adulthood. Enzyme 43: 160–168.
