NDLI: Hereditary orotic aciduria: evidence for a structural gene mutation.

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Hereditary orotic aciduria: evidence for a structural gene mutation.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Kelley, W. N. Worthy, T. E. Grobner, W.
Abstract	Orotic aciduria is a rare autosomal recessive disease in man due to a deficiency of orotate phosphoribosyltransferase (EC 2.4.2.10; orotidine-5'-phosphate:pyrophosphate phosphoribosyltransferase) and orotidine-5'-phosphate decarboxylase (EC 4.1.1.23; orotidine-5'-phosphate carboxy-lyase). We have compared certain physicochemical properties of orotidine-5'-phosphate decarboxylase from normal and mutant fibroblasts grown under identical conditions. Orotidine-5'-phosphate decarboxylase from homozygous mutant cells was more thermolabile and exhibited a different electrophoretic mobility when compared to the enzyme from normal cells; orotidine-5'-phosphate decarboxylase from one heterozygous cell strain exhibited an intermediate thermolability while the other heterozygote displayed a thermal inactivation curve indistinguishable from normal. The enzyme from both normal and mutant cells exhibited biphasic kinetics with the same apparent Michaelis constants. These data suggest that the molecular defect in the enzyme of this patient with orotic aciduria is due to a mutation in a gene that affects the structure of either orotate phosphoribosyltransferase or orotidine-5'-phosphate decarboxylase and cannot be attributed to a mutation in a regulatory gene, as previously suggested.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	8
Volume Number	71
Language	English
Publisher	National Academy of Sciences
Publisher Date	1974-12-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Carboxy-Lyases Deficiency Genes Mutation Orotic Acid Urine Pentosyltransferases Purine-Pyrimidine Metabolism, Inborn Errors Genetics Azauridine Pharmacology Carbon Radioisotopes Metabolism Cells, Cultured Centrifugation, Density Gradient Electrophoresis, Polyacrylamide Gel Fibroblasts Enzymology Genes, Regulator Hot Temperature Stimulation, Chemical Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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