Partial deficiency of hypoxanthine‐phosphoribosyltransferase:evidence for a structural mutation in a patient with gout
- 1 February 1979
- journal article
- research article
- Published by Wiley in European Journal of Clinical Investigation
- Vol. 9 (1) , 43-47
- https://doi.org/10.1111/j.1365-2362.1979.tb01665.x
Abstract
A mutant hypoxanthine-phosphoribosyltransferase (EC 2.4.2.8) from a patient with gout was examined. The activity of the erythrocyte enzyme was about 5% of normal in this case. Immunoprecipitation studies using antiserum against highly purified human hypoxanthine-phosphoribosyltransferase revealed that the patient''s erythrocytes contained a normal amount of cross-reacting material. The mutant enzyme had an altered net charge as shown by preparative isoelectric focusing (pI (isoelectric point) values of 5.75 and 4.55). The influence of chemical modification on enzymic activity was studied using a number of different reagents directed against SH, NH2 and guanidino groups. Compared with normal hypoxanthine-phosphoribosyltransferase the mutant enzyme showed a generally lowered susceptibility to active site-directed inhibition. The patient''s enzyme is apparently the product of a structural mutation.Keywords
This publication has 12 references indexed in Scilit:
- Juvenile Gicht mit verminderter Aktivität der Hypoxanthinguaninphosphoribosyl-Transferase und PhäochromozytomDeutsche Medizinische Wochenschrift (1946), 1978
- Irreversible Inhibition of Hypoxanthine Phosphoribosyltransferase Further Studies on the Specificity of Periodate-Oxidized GMPHoppe-Seyler´s Zeitschrift Für Physiologische Chemie, 1977
- Reaction of antibody to normal human hypoxanthine phosphoribosyltransferase with products of mutant genesArchives of Biochemistry and Biophysics, 1976
- Facilitated Purification of Hypoxanthine PhosphoribosyltransferaseHoppe-Seyler´s Zeitschrift Für Physiologische Chemie, 1976
- Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.Journal of Clinical Investigation, 1975
- Irreversible Inactivation of Hypoxanthine Phosphoribosyltransferase by Periodate Oxidized NucleotidesHoppe-Seyler´s Zeitschrift Für Physiologische Chemie, 1975
- Hypoxanthine-Guanine Phosphoribosyltransferase Variant Associated with Accelerated Purine SynthesisJournal of Clinical Investigation, 1973
- Disparate Enzyme Activity in Erythrocytes and Leukocytes. A VARIANT OF HYPOXANTHINE PHOSPHORIBOSYL-TRANSFERASE DEFICIENCY WITH AN UNSTABLE ENZYMEJournal of Clinical Investigation, 1973
- Rapid assay for purine phosphoribosyltransferasesAnalytical Biochemistry, 1972
- Purification of IMP:Pyrophosphate Phosphoribosyltransferases, Catalytically Incompetent Enzymes in Lesch-Nyhan DiseaseProceedings of the National Academy of Sciences, 1971