Cell
ReviewThe HPRT locus
References (79)
- et al.
Hypoxanthine transport by cultured Chinese hamster lung fibroblasts
J. Biol. Chem.
(1976) - et al.
Human hypoxanthine-guanine phosphoribosyltransferase
J. Biol. Chem.
(1971) - et al.
The isolation of a suppressible nonsense mutant in mammalian cells
Cell
(1977) - et al.
Forward and reverse mutations affecting the kinetics and apparent molecular weight of mammalian HGPRT
Cell
(1977) - et al.
Regulation of de novo purine synthesis in human lymphoblasts
J. Biol. Chem.
(1977) - et al.
Human hypoxanthine-guanine phosphoribosyltransferase
J. Biol. Chem.
(1978) - et al.
Purification and characterization of mouse hypoxanthine-guanine phosphoribosyltransferase
J. Biol. Chem.
(1975) - et al.
Human hypoxanthine phosphoribosyltransferase
J. Biol. Chem.
(1969) - et al.
Guanine and xanthine phosphoribosyltransfer activities of Lactobacillus casei and Escherichi coli
J. Biol. Chem.
(1970) - et al.
A familial disorder of uric acid metabolism and central nervous system function
Am. J. Med.
(1964)
Chinese hamster hypoxanthine-guanine phosphoribosyltransferase
J. Biol. Chem.
Subunit molecular weight of human hypoxanthine-guanine phosphoribosyltransferase
J. Biol. Chem.
Biochemical basis of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase
J. Biol. Chem.
A biochemical basis for resistance of L1210 mouse leukemia to 6-thioguanine
Biochem. Pharmacol.
Reappearance of murine HPRT in mouse A9 cells after attempted hybridization with human cell lines
Exp. Cell Res.
Purine and pyrimidine transport by cultured Novikoff cells
J. Biol. Chem.
Diploid azaguanine-resistant mutants of cultured human fibroblasts
Science
Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome
J. Clin. Invest.
Restoration of HPRT activity in mouse cells after fusion
Mutations affecting the structure of HPRT in cultured Chinese hamster cells
Rescue of marker phenotypes mediated by cell hybridization
Int. J. Radiol. Biol.
Biochemical aspects of resistance to 6-mercaptopurine in human epidermoid carcinoma cells in culture
Nature
Characterization of premature chain termination mutants of HPRT and their revertants in Chinese hamster cells
Nonsense Mutations and tRNA Suppressors
Somatic cell genetic evidence for X-linkage of three enzymes in the mouse
Nature
Chromosome-wide event accompanies the expression of recessive mutations in tetraploid cells
Science
Mutant alleles for HPRT: codominant expression, complementation, and segregation in hybrids
Somatic Cell Genet.
Characterization of HPRT mutations in cultured Chinese hamster cells
Mammalian cell genetics I. Selection and characterization of mutations auxotrophic for L-glutamine or resistant to 8-aza-guanine in Chinese hamster in cells in vitro
Genetics
Reexpression of the rat HPRT in rat-human hybrids
Chromosome-mediated gene transfer between closely related strains of cultured mouse cells
Overexpression of an unstable inherited gene in cultured mouse cells
Mosaic mice with teratocarcinoma-derived mutant cells deficient in HPRT
Mutagen induced diploid human lymphoblast variants containing altered HPRT
Somatic Cell Genet.
Stable association of the human transgenome and host murine chromosomes demonstrated with trispecific microcell hybrids
The occurrence of new mutants in X-linked recessive Lesch-Nyhan disease
Am. J. Human Genet.
Sense and nonsense in the genetic code
Science
Radioimmune determination of HPRT crossreacting material in erythrocytes of Lesch-Nyhan patients
8-Azaguanine resistance in mammalian cells: HGPRT
Genetics
Cited by (135)
Molecular characterization of hypoxanthine guanine phosphoribosyltransferase mutant T cells in human blood: The concept of surrogate selection for immunologically relevant cells
2022, Mutation Research - Reviews in Mutation ResearchCitation Excerpt :HPRT mutants are resistant to 6TG allowing them to be cultured under these conditions [3]. Although expressed constitutively, the HPRT gene (and HPRT) is dispensable for cell survival in that HPRT mutant cells in culture have normal growth [20], due to the complementary de novo purine biosynthetic pathway [12]. To this point, T cell responses, as well as B cell responses, to in vitro mitogenic and antigenic stimulation were shown to be ‘normal’ in Lesch-Nyhan patients with HPRT defects [21,22].
Mutagenicity monitoring in humans: Global versus specific origin of mutations
2020, Mutation Research - Reviews in Mutation ResearchCitation Excerpt :The HPRT mutation leading to an enzyme deficiency first came to scientific attention more than 50 years ago, when it was recognized as the defect underlying a severe congenital neurological disorder, now known as the Lesch- Nyhan syndrome [108,109]. Since mutation of HPRT also confers a phenotype at the single-cell level, the utility of this gene for basic genetic studies was quickly recognized [110]. HPRT is a single-copy gene located on the X-chromosome [111].
Lymphocyte Hprt mutant frequency and sperm toxicity in C57BL/6 mice treated chronically with Azathioprine
2005, Mutation Research - Fundamental and Molecular Mechanisms of MutagenesisFunctional complementation of a genetic deficiency with human artificial chromosomes
2001, American Journal of Human GeneticsCitation Excerpt :We constructed a HAC vector for the transfer of a human marker gene, containing alphoid DNA from the centromere of chromosome 17, telomeric sequences, and, from human Xq26.2, a large genomic segment spanning the hypoxanthine guanine phosphoribosyltransferase (HPRT) locus, HPRT1 (MIM 308000; Project Ensembl) (Mejía and Larin 2000). HPRT1 encodes a purine-salvage enzyme, and mutations in this gene result in Lesch-Nyhan syndrome (MIM 300322), a neurodevelopmental disorder characterized by self-injurious and abnormal motor behavior (Caskey and Kruh 1979). In this study, we introduced the HAC vector into HPRT-deficient human fibrosarcoma cells and obtained stable artificial minichromosomes that complemented the HPRT− phenotype of the host cells.