Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene

FEBS Letters

Shimada, Tokihiko¹  Saheki, Takeyori¹  Takiguchi, Masaki³  Noda, Takashi¹  Yamamura, Ken-ichi⁴  Murakami, Takashi³  Tashiro, Masaaki²  Mori, Masataka³ 

[1] Department of Biochemistry, Faculty of Medicine, Kagashima University, Sakuragaoka 8-35-1, 890 Kagoshima, Japan;Department of Dermatology, Faculty of Medicine, Kagashima University, Sakuragaoka 8-35-1, 890 Kagoshima, Japan;Department of Experimental Genetics, Institute for Medical Genetics, Kumamata University Medical School, Kuhanji 4-24-1, 860 Kumamoto, Japan;Department of Cytogenetics, Institute of Medical Genetics, Kumamata University Medical School, Kuhanji 4-24-1, 860 Kumamoto, Japan

关键词: Ornithine transcarbamylase;    Transgenic animal;    Enzyme deficiency;    Citrulline;    Orotic acid;    Gene therapy;   

DOI  :  10.1016/0014-5793(91)80148-V

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

We introduced rat ornithine transcarbumylase (OTC) gene into OTC-deficient spf-ash mice by mating spf-ash heterozygotes with transgenic mice which carried recombinant DNA composed of 1.3 kb of the 5′ flanking region of the gene fused onto rat OTC cDNA. The liver OTC activity of hemizygous spf-ash mice which carried the transgene was about twice that of nontransgenic spf-ash mice, and the small intestinal OTC activity was 6 times higher; the values being 12% and 27% of the control levels, respectively. The transgenic spf-ash mice showed normal hair growth without sparse, fur, nearly normalized urinary orotic acid excretion and normalized serum citrulline concentration.

【 授权许可】

Unknown