X-linked Hypoxanthine-guanine Phosphoribosyl Transferase Deficiency: Heterozygote Has Two Clonal Populations

Overview

Journal Science

Specialty Science

Date 1968 Apr 26

PMID 4868511

Citations 59

Authors

B R MIGEON

V M Der Kaloustian

W L Nyhan

W J Yough

B Childs

Affiliations

Soon will be listed here.

Abstract

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 (3)H-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 (3)H-guanine, is evidence that the locus for hypoxanthineguanine phosphoribosyl transferase on one of the X chromosomes is inactive.

Citing Articles

Large-scale population study of human cell lines indicates that dosage compensation is virtually complete.

Johnston C, Lovell F, Leongamornlert D, Stranger B, Dermitzakis E, Ross M PLoS Genet. 2008; 4(1):e9.

PMID: 18208332 PMC: 2213701. DOI: 10.1371/journal.pgen.0040009.

Expression of genes from the human active and inactive X chromosomes.

Brown C, Carrel L, Willard H Am J Hum Genet. 1997; 60(6):1333-43.

PMID: 9199554 PMC: 1716148. DOI: 10.1086/515488.

Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells.

Hakoda M, Hirai Y, Akiyama M, Yamanaka H, Terai C, Kamatani N Hum Genet. 1995; 96(6):674-80.

PMID: 8522326 DOI: 10.1007/BF00210298.

An enumerative assay of purine analogue resistant lymphocytes in women heterozygous for the Lesch-Nyhan Mutation.

Strauss G, ALLEN E, Albertini R Biochem Genet. 1980; 18(5-6):529-47.

PMID: 7437011 DOI: 10.1007/BF00484400.

Characterization of the subunit composition of HGPRTase from human erythrocytes and cultured fibroblasts.

Zannis V, Gudas L, Martin Jr D Biochem Genet. 1980; 18(1-2):1-19.

PMID: 7387617 DOI: 10.1007/BF00504356.