Compared expression levels of ornithine transcarbamylase and carbamylphosphate synthetase in liver and small intestine of normal and mutant mice.
Enzymatic assay, electrophoretic immunoblotting and RNA dot-blot techniques were employed to investigate the expression of the ornithine transcarbamylase (OTC) gene in liver and small intestine of Sparse fur mice with abnormal skin and hair (Spf-ash) and Sparse fur mice (Spf) which exhibit an X-linked OTC deficiency. We found a reduced OTC activity in these two tissues. We now show that this reduction is less pronounced in the intestine than in the liver of the Spf-ash strain. During the first 2 weeks of life, the deficiency appears to be less severe than in the adult mice. The enzymatic activity of carbamylphosphate synthetase I (CPS), another enzyme of the urea cycle, is significantly modified in the Spf mutant strain only.
Dubois
N
N
Laboratoire de Biochimie Génétique, Hôpital Necker-Enfants Malades, Paris, France.
Cavard
C
C
Chasse
J F
JF
Kamoun
P
P
Briand
P
P
D000818:Animals; D015152:Blotting, Northern; D015153:Blotting, Western; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005796:Genes; D007421:Intestine, Small / Q000201:enzymology*; D008099:Liver / Q000201:enzymology*; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains / Q000235:genetics*; D009954:Ornithine Carbamoyltransferase / Q000235:genetics* / Q000378:metabolism; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D012333:RNA, Messenger / Q000235:genetics / Q000302:isolation & purification; D012016:Reference Values; D013045:Species Specificity; D014158:Transcription, Genetic
D012333:RNA, Messenger; D009954:Ornithine Carbamoyltransferase; D002222:Carbamoyl-Phosphate Synthase (Ammonia)