Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Chemical Agents Selective for Mutant or Normal Cultured Fibroblasts in Mixed and Heterozygote Cultures
- 1 July 1971
- journal article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences of the United States of America
- Vol. 68 (7), 1516-1519
- https://doi.org/10.1073/pnas.68.7.1516
Abstract
Cultured fibroblasts established from skin biopsies from patients with the Lesch-Nyhan syndrome are deficient in hypoxanthine-guanine phosphoribosyl-transferase (EC 2.4.2.8) activity. This deficiency makes possible the use of chemicals that select either for or against deficient variants in cultured fibroblasts. Two-way selection has been achieved by the use of 6-thioguanine, which selects for the deficient mutant, and azaserine, which selects to some extent for the normal allele in mixed cultures, as well as in cultures from heterozygotes. Theoretical considerations predict that the phenomenon of metabolic cooperation would tend to reinforce the former and to weaken the latter type of selection, and this is in accordance with the experimental findings.Keywords
This publication has 23 references indexed in Scilit:
- Evidence for Transfer of Enzyme Product as the Basis of Metabolic Cooperation between Tissue Culture Fibroblasts of Lesch-Nyhan Disease and Normal CellsProceedings of the National Academy of Sciences of the United States of America, 1970
- Lesch-Nyhan Syndrome: Preventive Control by Prenatal DiagnosisScience, 1970
- Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Activity in Normal, Mutant, and Heterozygote-Cultured Human Skin FibroblastsProceedings of the National Academy of Sciences of the United States of America, 1970
- Lesch-Nyhan Mutation: Prenatal Detection with Amniotic Fluid CellsScience, 1969
- Inheritance of purine phosphoribosyltransferases in man.1969
- BIOCHEMICAL DIAGNOSIS OF AN X-LINKED DISEASE IN UTEROThe Lancet, 1968
- Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells.Proceedings of the National Academy of Sciences of the United States of America, 1968
- X-Linked Recessive Inheritance of a Syndrome of Mental Retardation With HyperuricemiaExperimental Biology and Medicine, 1966
- Biochemically marked variants of the syrian hamster fibroblast cell line BHK21 and its derivativesExperimental Cell Research, 1965
- THE INOSINIC ACID PYROPHOSPHORYLASE ACTIVITY OF MOUSE FIBROBLASTS PARTIALLY RESISTANT TO 8-AZAGUANINEProceedings of the National Academy of Sciences of the United States of America, 1963