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Science 26 April 1968:
Vol. 160. no. 3826, pp. 425 - 427
DOI: 10.1126/science.160.3826.425
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Articles

X-Linked Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency: Heterozygote Has Two Clonal Populations

Barbara R. Migeon 1, Vazken M. Der Kaloustian 1, William L. Nyhan 1, William J. Young 1, and Barton Childs 1

1 Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205

Clones of skin fibroblasts cultured from the mother of two sons with X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency (Lesch-Nyhan syndrome) were assayed for activity of this enzyme by measurement of the incorporation of 3H-guanine into guanylic acid as counts per minute per microgram of protein and by autoradiography. The demonstration of two populations of clones, wild-type clones with normal enzyme activity and mutant clones unable to incorporate 3H-guanine, is evidence that the locus for hypoxanthineguanine phosphoribosyl transferase on one of the X chromosomes is inactive.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Non-inactivation of an x-chromosome locus in man.
L. Shapiro, T Mohandas, R Weiss, and G Romeo (1979)
Science 204, 1224-1226
   Abstract »    PDF »
Clinical Features of the Lesch-Nyhan Syndrome.
W. L. Nyhan (1972)
Arch Intern Med 130, 186-192
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Biochemistry of the X-Linked Uric Aciduria--Enzyme Defect and Its Genetic Variants.
W. N. Kelley (1972)
Arch Intern Med 130, 199-206
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An Approach to the Control of PRT Deficiency Through Antenatal Diagnosis.
W. Y. Fujimoto (1972)
Arch Intern Med 130, 207-211
   Abstract »    PDF »
Further Studies of the Enzyme Composition of Mutant Cells in X-Linked Uric Aciduria.
L. Sweetman and W. L. Nyhan (1972)
Arch Intern Med 130, 214-220
   Abstract »    PDF »
Human Phosphoglycerate Kinase and Inactivation of the X Chromosome.
B. F. Deys, K. H. Grzeschick, A. Grzeschick, E. R. Jaffe, and M. Siniscalco (1972)
Science 175, 1002-1003
   Abstract »    PDF »
Partial Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase: Intermediate Enzyme Deficiency in Heterozygote Red Cells.
B. T. EMMERSON, C. J. THOMPSON, and D. C. WALLACE (1972)
Ann Intern Med 76, 285-287
   Abstract »    PDF »
Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles.
S. M. Gartler, R. C. Scott, J. L. Goldstein, B. Campbell, and R. Sparkes (1971)
Science 172, 572-574
   Abstract »    PDF »
Genetic Inactivation of the agr-Galactosidase Locus in Carriers of Fabry's Disease.
G. Romeo and B. R. Migeon (1970)
Science 170, 180-181
   Abstract »    PDF »
Biochemically Marked Lymphocytoid Lines: Establishment of Lesch-Nyhan Cells.
K. W. Choi and A. D. Bloom (1970)
Science 170, 89-90
   Abstract »    PDF »
Diploid Azaguanine-Resistant Mutants of Cultured Human Fibroblasts.
R. J. Albertini and R. DeMars (1970)
Science 169, 482-485
   Abstract »    PDF »
Diagnosis of Lesch-Nyhan Syndrome by Direct Study of Skin Specimens.
P. Frost, G. D. Weinstein, and W. L. Nyhan (1970)
JAMA 212, 316-318
   Abstract »    PDF »
Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency..
B. T. Emmerson and J. B. Wyngaarden (1969)
Science 166, 1533-1535
   Abstract »    PDF »
Lesch-Nyhan Mutation: Prenatal Detection with Amniotic Fluid Cells.
R. Demars, G. Sarto, J. S. Felix, and P. Benke (1969)
Science 164, 1303-1305
   Abstract »    PDF »
Congenital Hyperuricemia: An Inborn Error of Purine Metabolism Associated With Psychomotor Retardation, Athetosis, and Self-Mutilation.
P. H. Berman, M. E. Balis, and J. Dancis (1969)
Arch Neurol 20, 44-53
   Abstract »    PDF »
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout.
W. N. KELLEY, M. L. GREENE, F. M. ROSENBLOOM, J. F. HENDERSON, and J. E. SEEGMILLER (1969)
Ann Intern Med 70, 155-206
   Abstract »    PDF »


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