HPRT1

Summary

Gene Symbol: HPRT1
Description: hypoxanthine phosphoribosyltransferase 1
Alias: HGPRT, HPRT, hypoxanthine-guanine phosphoribosyltransferase, HGPRTase, hypoxanthine-guanine phosphoribosyltransferase 1, testicular tissue protein Li 89
Species: human
Products:     HPRT1

Top Publications

  1. Duan J, Nilsson L, Lambert B. Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus. Hum Mutat. 2004;23:599-611 pubmed
    Hypoxanthine phosphoribosyl transferase (HPRT, also known as HGPRT) is an often-used genetic marker in eukaryotic cells...
  2. Yamada Y, Nomura N, Yamada K, Wakamatsu N. Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. Mol Genet Metab. 2007;90:70-6 pubmed
    Inherited mutations of a purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8), give rise to Lesch-Nyhan syndrome or HPRT-related gout...
  3. Edwards A, Voss H, Rice P, Civitello A, Stegemann J, Schwager C, et al. Automated DNA sequencing of the human HPRT locus. Genomics. 1990;6:593-608 pubmed
    The complete sequence of 57 kb of the human HPRT locus has been determined using automated fluorescent DNA sequencing...
  4. Gibbs R, Nguyen P, Edwards A, Civitello A, Caskey C. Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics. 1990;7:235-44 pubmed
    ..human neurological disease that results from mutations that inactivate the hypoxanthine phosphoribosyltransferase (HPRT) gene...
  5. Gibbs R, Nguyen P, McBride L, Koepf S, Caskey C. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A. 1989;86:1919-23 pubmed
    ..disease that results from a deficiency of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT). The mutations leading to the disease are heterogeneous and frequently arise as de novo events...
  6. Cariello N, Scott J, Kat A, Thilly W, Keohavong P. Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich. Am J Hum Genet. 1988;42:726-34 pubmed
    ..the generation of a 169-bp, wild-type DNA probe that encompasses most of exon 3 of the human hypoxanthine guanine phosphoribosyltransferase (HPRT) gene and contains a low-temperature melting domain of approximately 100 bp...
  7. Wong D, Harris J, Naidu S, Yokoi F, Marenco S, Dannals R, et al. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc Natl Acad Sci U S A. 1996;93:5539-43 pubmed
    ..To our knowledge, these findings provide the first in vivo documentation of a dopaminergic reduction in LND and illustrate the role of positron emission tomography imaging in investigating neurodevelopmental disorders...
  8. Guibinga G, Hsu S, Friedmann T. Deficiency of the housekeeping gene hypoxanthine-guanine phosphoribosyltransferase (HPRT) dysregulates neurogenesis. Mol Ther. 2010;18:54-62 pubmed publisher
    ..Mutations in the gene encoding the purine biosynthetic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) cause the resulting intractable and largely untreatable neurological impairment of Lesch-Nyhan disease (LND)...
  9. Sege Peterson K, Chambers J, Page T, Jones O, Nyhan W. Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. Hum Mol Genet. 1992;1:427-32 pubmed
    ..disease is caused by an almost complete lack of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Partial HPRT-deficiency, associated with less severe phenotype, has also been identified...

More Information

Publications120 found, 100 shown here

  1. Tarle S, Davidson B, Wu V, Zidar F, Seegmiller J, Kelley W, et al. Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects. Genomics. 1991;10:499-501 pubmed
    Hypoxanthine--guanine phosphoribosyltransferase (HPRT) is a purine salvage enzyme that catalyzes the conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate...
  2. Ogasawara N, Stout J, Goto H, Sonta S, Matsumoto A, Caskey C. Molecular analysis of a female Lesch-Nyhan patient. J Clin Invest. 1989;84:1024-7 pubmed
    ..of a female patient with the X-linked recessive Lesch-Nyhan syndrome (hypoxanthine phosphoribosyltransferase [HPRT] deficiency)...
  3. Davidson B, Chin S, Wilson J, Kelley W, Palella T. Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects. J Clin Invest. 1988;82:2164-7 pubmed
    In past reports of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency a marked degree of molecular heterogeneity has been noted. We have previously described two apparently unrelated subjects with partial HPRT deficiency, G...
  4. Ceballos Picot I, Mockel L, Potier M, Dauphinot L, Shirley T, Torero Ibad R, et al. Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis. Hum Mol Genet. 2009;18:2317-27 pubmed publisher
    Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency results in Lesch-Nyhan disease (LND), where affected individuals exhibit a characteristic neurobehavioral disorder that has been linked with dysfunction of dopaminergic ..
  5. Torres R, Prior C, Garcia M, Puig J. A review of the implication of hypoxanthine excess in the physiopathology of Lesch-Nyhan disease. Nucleosides Nucleotides Nucleic Acids. 2016;35:507-516 pubmed
    Lesch-Nyhan disease is caused by HGprt deficiency, however, the mechanism by which enzyme deficiency leads to the severe neurological manifestations is still unknown...
  6. Harris J. Lesch-Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype. Curr Opin Psychiatry. 2017;: pubmed publisher
    ..the extended behavioral, neurologic, and neurocognitive phenotype in classic LNS, to describe milder variants of HGprt deficiency that do not self-injure and have less severe neurological and cognitive deficits, and to provide an ..
  7. Del Castillo Velasco Martínez I, Hernández Camacho C, Méndez Rodríguez L, Zenteno Savín T. Purine metabolism in response to hypoxic conditions associated with breath-hold diving and exercise in erythrocytes and plasma from bottlenose dolphins (Tursiops truncatus). Comp Biochem Physiol A Mol Integr Physiol. 2016;191:196-201 pubmed publisher
    ..Activity of enzymes involved in purine metabolism (hypoxanthine guanine phosphoribosyl transferase (HGPRT), inosine monophosphate deshydrogenase (IMPDH), xanthine oxidase (XO), purine nucleoside phosphorylase (PNP)), and ..
  8. Zhang J, Zhang F, Guo L, Li N, Shan B. Chronic alcohol administration affects purine nucleotide catabolism in vivo. Life Sci. 2017;168:58-64 pubmed publisher
    ..phosphoribosylpyrophosphate amidotransferase (GPRPPAT), hypoxanthine-guanine phosphate ribose transferase (HGPRT), and adenine phosphoribosyltransferase (APRT) in the tissues were analyzed...
  9. Xu W, Foster B, Richards M, Bondioli K, Shah G, Green C. Characterization of prostate cancer cell progression in zebrafish xenograft model. Int J Oncol. 2018;52:252-260 pubmed publisher
    ..profiles of two PCa housekeeping genes, TATA-binding protein (TBP) and hypoxanthine phosphoribosyltransferase 1 (HPRT1) encoding genes. The excessive proliferation of PC3 cells in vivo was detected with both qPCR assays...
  10. Hwang K, Kwon J, Noh Y, Park B, Jeong Y, Lee S, et al. Effects of Zanthoxylum piperitum ethanol extract on osteoarthritis inflammation and pain. Biomed Pharmacother. 2018;105:481-490 pubmed publisher
    ..LPS-induced HPRT1 (hypoxanthine phosphoribosyltransferase 1) was decreased by ZPE-LR...
  11. Niu Y, Zhou Y, Lin H, Gao L, Xiong W, Zhu H, et al. Inhibition of 3,5,2',4'-tetrahydroxychalcone on production of uric acid in hypoxanthine-induced hyperuricemic mice. Biol Pharm Bull. 2017;: pubmed publisher
    ..phosphoribosyl pyrophosphate amidotransferase (PRPPAT) and hypoxanthine-guanine phosphoribosyl transferase (HGPRT). Our results demonstrated that 3,5,2',4'-tetrahydroxychalcone (1.0, 2.0, and 4...
  12. Wein S, Laviano A, Wolffram S. Quercetin induces hepatic γ-glutamyl hydrolase expression in rats by suppressing hepatic microRNA rno-miR-125b-3p. J Nutr Biochem. 2015;26:1660-3 pubmed publisher
    ..gene gamma-glutamyl hydrolase (GGH) by quantitative real-time PCR using hypoxanthine phosphoribosyltransferase 1 (hprt1) as endogenous control. Compared to controls, 23 miRNAs were differentially expressed in rats fed quercetin...
  13. Wee N, Sinder B, Novak S, Wang X, Stoddard C, Matthews B, et al. Skeletal phenotype of the neuropeptide Y knockout mouse. Neuropeptides. 2019;73:78-88 pubmed publisher
    ..By crossing the NPYflox mice with Hypoxanthine Phosphoribosyltransferase 1 (Hprt)-cre to generate a global knockout, we were able to validate and confirm loss of Npy transcript and protein in our ..
  14. Nayak A, Neill C, Kormos R, Lagazzi L, Halder I, McTiernan C, et al. Chemokine receptor patterns and right heart failure in mechanical circulatory support. J Heart Lung Transplant. 2017;36:657-665 pubmed publisher
    ..of 3 control genes, glyceraldehyde phosphate dehydrogenase (GAPDH), hypoxanthine phosphoribosyltransferase 1 (HPRT1) and ?2-microglobulin (B2M)...
  15. Li Q, Leija C, Rijo Ferreira F, Chen J, Cestari I, Stuart K, et al. GMP synthase is essential for viability and infectivity of Trypanosoma brucei despite a redundant purine salvage pathway. Mol Microbiol. 2015;97:1006-20 pubmed publisher
    ..XMP) by GMP synthase (GMPS) or direct salvage of guanine by hypoxanthine-guanine phosphoribosyltransferase (HGPRT). We show recombinant T. brucei GMPS efficiently catalyzes GMP formation...
  16. Keough D, Rejman D, Pohl R, Zborníková E, Hocková D, Croll T, et al. The Design of Plasmodium vivax Hypoxanthine-Guanine Phosphoribosyltransferase Inhibitors as Potential Antimalarial Therapeutics. ACS Chem Biol. 2017;: pubmed publisher
    ..85 Å resolution. The corresponding complex with human HGPRT was also obtained to allow a direct comparison of the binding modes of this compound with the two enzymes...
  17. Kaiser M, Hocková D, Wang T, Dračínský M, Poštová Slavětínská L, Procházková E, et al. Synthesis and Evaluation of Novel Acyclic Nucleoside Phosphonates as Inhibitors of Plasmodium falciparum and Human 6-Oxopurine Phosphoribosyltransferases. ChemMedChem. 2015;10:1707-23 pubmed publisher
    ..1 μM and a Ki value for human HGPRT of 0.6 μM...
  18. Patel B, Patel D, Parmar K, Chauhan R, Singh D, Pappachan A. L. donovani XPRT: Molecular characterization and evaluation of inhibitors. Biochim Biophys Acta Proteins Proteom. 2018;1866:426-441 pubmed publisher
    ..Two Ld-XPRT inhibitors (dGDP and cGMP), which also have ability to inhibit Leishmanial HGPRT, are predicted as potential drug candidates as it can inhibit both the important enzymes of the purine salvage ..
  19. Roy S, Nagappa L, Prahladarao V, Balaram H. Kinetic mechanism of Plasmodium falciparum hypoxanthine-guanine-xanthine phosphoribosyltransferase. Mol Biochem Parasitol. 2015;204:111-120 pubmed publisher
    ..Human HGPRT follows a steady-state ordered mechanism, wherein PRPP binding precedes the binding of hypoxanthine/guanine and ..
  20. Jain A, Senapati V, Singh D, Dubey K, Maurya R, Pandey A. Impact of anatase titanium dioxide nanoparticles on mutagenic and genotoxic response in Chinese hamster lung fibroblast cells (V-79): The role of cellular uptake. Food Chem Toxicol. 2017;105:127-139 pubmed publisher
    ..by Comet assay, the mutagenic potential of TiO2 NPs in V-79 cells was evaluated by mammalian HGPRT gene forward mutation assay, showing a 2.98- fold increase in 6TGR HGPRT mutant frequency (*p < 0...
  21. Chan C, Zhao H, Pugh R, Pedley A, French J, Jones S, et al. Purinosome formation as a function of the cell cycle. Proc Natl Acad Sci U S A. 2015;112:1368-73 pubmed publisher
    ..b>HGPRT-deficient fibroblast cells also exhibited the greatest purinosome formation in the G1 phase; however, elevated ..
  22. Zeng Q, Zhang S, Liao J, Miao D, Wang X, Yang P, et al. Evaluation of genotoxic effects caused by extracts of chlorinated drinking water using a combination of three different bioassays. J Hazard Mater. 2015;296:23-29 pubmed publisher
    ..Genotoxic effects of water extracts were evaluated using a combination of three different bioassays: SOS/umu test, HGPRT gene mutation assay, and micronucleus assay, which were separately used to detect DNA damage, gene mutation, and ..
  23. Shields L, Peppas D, Rosenberg E. Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report. BMC Pediatr. 2018;18:231 pubmed publisher
    ..of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)...
  24. Reddy P, Khan S, Ponnan P, Tripathi M, Rawat D. Design, synthesis and evaluation of 4-aminoquinoline-purine hybrids as potential antiplasmodial agents. Eur J Med Chem. 2017;126:675-686 pubmed publisher
    ..Computational docking studies showed that the most active hybrids dock well within the binding site of HGPRT protein...
  25. Wang C, Yen J, Cheng Y, Lin C, Hsieh C, Gau R, et al. Polygala tenuifolia extract inhibits lipid accumulation in 3T3-L1 adipocytes and high-fat diet-induced obese mouse model and affects hepatic transcriptome and gut microbiota profiles. Food Nutr Res. 2017;61:1379861 pubmed publisher
    ..FBS: fetal bovine serum; Fdps: farnesyl diphosphate synthase; Glc: Glucose; HFD: high-fat diet; GO: gene ontology; HPRT: hypoxanthine guanine phosphoribosyl transferase; IBMS: 3-isobutyl-1-methylxanthine; Idi1: isopentenyl-diphosphate ..
  26. Thumfart J, Weschke B, Ringe H, Weinhold N, Muller D. Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex. Eur J Paediatr Neurol. 2016;20:649-51 pubmed publisher
    ..high levels of uric acid compared to kidney function, screening of hypoxanthine-guanine phosphoribosyltransferase (HPRT) related diseases was initiated...
  27. Jia J, Bai F, Jin Y, Santostefano K, Ha U, Wu D, et al. Efficient Gene Editing in Pluripotent Stem Cells by Bacterial Injection of Transcription Activator-Like Effector Nuclease Proteins. Stem Cells Transl Med. 2015;4:913-26 pubmed publisher
    ..In addition, a defined single-base edition was effectively introduced into the X-chromosome-linked HPRT1 gene in hiPSCs, generating an in vitro model of Lesch-Nyhan syndrome...
  28. Laróvere L, O Neill J, Randall M, Fairbanks L, Guelbert N, Czornyj L, et al. Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients. Nucleosides Nucleotides Nucleic Acids. 2007;26:255-8 pubmed
    Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an inborn error of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its partial phenotypes, HPRT-related hyperuricemia with neurologic dysfunction (HRND) ..
  29. Wende K, Bekeschus S, Schmidt A, Jatsch L, Hasse S, Weltmann K, et al. Risk assessment of a cold argon plasma jet in respect to its mutagenicity. Mutat Res Genet Toxicol Environ Mutagen. 2016;798-799:48-54 pubmed publisher
    ..argon plasma jet (kinpen) using different testing systems in accordance with ISO norms and multiple cell lines: a HPRT1 mutation assay, a micronucleus formation assay, and a colony formation assay...
  30. Kendall H, Vacek P, Rivers J, Rice S, Messier T, Finette B. Analysis of genetic alterations and clonal proliferation in children treated for acute lymphocytic leukemia. Cancer Res. 2006;66:8455-61 pubmed
    ..have significantly elevated somatic mutant frequencies at the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene in their peripheral T cells...
  31. Guibinga G. MicroRNAs: tools of mechanistic insights and biological therapeutics discovery for the rare neurogenetic syndrome Lesch-Nyhan disease (LND). Adv Genet. 2015;90:103-131 pubmed publisher
    ..caused by mutations in the purine metabolic gene encoding the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme...
  32. Makinoshima H, Umemura S, Suzuki A, Nakanishi H, Maruyama A, Udagawa H, et al. Metabolic Determinants of Sensitivity to Phosphatidylinositol 3-Kinase Pathway Inhibitor in Small-Cell Lung Carcinoma. Cancer Res. 2018;78:2179-2190 pubmed publisher
    ..i>Cancer Res; 78(9); 2179-90. ©2018 AACR. ..
  33. Kudo M, Saito Y, Sasaki T, Akasaki H, Yamaguchi Y, Uehara M, et al. Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals. Drug Metab Pharmacokinet. 2009;24:557-64 pubmed
    ..all the exons and exon-intron junctions of 5 enzyme genes (hypoxanthine-guanine phosphoribosyltransferase, HGPRT; inosine triphosphate pyrophosphatase, ITPA; inosine monophosphate dehydrogenases 1 and 2, IMPDH1 and IMPDH2 and ..
  34. Meek S, Buehr M, Sutherland L, Thomson A, Mullins J, Smith A, et al. Efficient gene targeting by homologous recombination in rat embryonic stem cells. PLoS ONE. 2010;5:e14225 pubmed publisher
    ..are amenable to in vivo recombination, we tested targeted disruption of the hypoxanthine phosphoribosyltransferase (hprt) locus in ES cells derived from both inbred and outbred strains of rats...
  35. Gogia S, Balaram H, Puranik M. Hypoxanthine guanine phosphoribosyltransferase distorts the purine ring of nucleotide substrates and perturbs the pKa of bound xanthosine monophosphate. Biochemistry. 2011;50:4184-93 pubmed publisher
    ..Human hypoxanthine guanine phosphoribosyltransferase (hHGPRT) catalyzes the phosphoribosylation of guanine and hypoxanthine, while the Plasmodium ..
  36. Mitra T, Bilic I, Hess M, Liebhart D. The 60S ribosomal protein L13 is the most preferable reference gene to investigate gene expression in selected organs from turkeys and chickens, in context of different infection models. Vet Res. 2016;47:105 pubmed
    ..In this study, eight candidate reference genes HMBS, HPRT1, TBP, VIM, TFRC, RPLP0, RPL13 and RPS7 were evaluated by five different algorithms (GeNorm, NormFinder, BestKeeper..
  37. Wilson J, Kobayashi R, Fox I, Kelley W. Human hypoxanthine-guanine phosphoribosyltransferase. J Biol Chem. 1983;258:6458-60 pubmed
    ..A single nucleotide change in the codon for arginine 50 (CGA leads to GGA) could explain this substitution. ..
  38. Rincon Limas D, Amaya Manzanares F, Nino Rosales M, Yu Y, Yang T, Patel P. Ubiquitous and neuronal DNA-binding proteins interact with a negative regulatory element of the human hypoxanthine phosphoribosyltransferase gene. Mol Cell Biol. 1995;15:6561-71 pubmed
    The hypoxanthine phosphoribosyltransferase (HPRT) gene is constitutively expressed at low levels in all tissues but at higher levels in the brain; the significance and mechanism of this differential expression are unknown...
  39. Yamada Y, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S. Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations. Nucleosides Nucleotides Nucleic Acids. 2008;27:570-4 pubmed publisher
    Inherited mutation of hypoxanthine guanine phosphoribosyltransferase, (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout...
  40. Li H, Hou P, Zhang X, He Y, Zhang J, Wang S, et al. Hypouricemic effect of allopurinol are improved by Pallidifloside D based on the uric acid metabolism enzymes PRPS, HGPRT and PRPPAT. Fitoterapia. 2016;113:1-5 pubmed publisher
    ..enhanced hypouricemic effect of allopurinol (5mg/kg) related to others uric acid metabolism enzymes such as PRPS, HGPRT and PRPPAT...
  41. Yamada Y, Nomura N, Yamada K, Kimura R, Fukushi D, Wakamatsu N, et al. Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. Nucleosides Nucleotides Nucleic Acids. 2014;33:218-22 pubmed publisher
    Mutation of hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome, which is characterized by hyperuricemia, severe motor disability, and self-injurious behavior, or HPRT-related gout with hyperuricemia...
  42. Aasa J, Vare D, Motwani H, Jenssen D, Törnqvist M. Quantification of the mutagenic potency and repair of glycidol-induced DNA lesions. Mutat Res Genet Toxicol Environ Mutagen. 2016;805:38-45 pubmed publisher
    ..area under the concentration-time curve) of Gly has been performed in Chinese hamster ovary (CHO) cells, using the HPRT assay...
  43. Cao K, Hao D, Wang J, Peng W, Yan Y, Cao H, et al. Cold exposure induces the acquisition of brown adipocyte gene expression profiles in cattle inguinal fat normalized with a new set of reference genes for qRT-PCR. Res Vet Sci. 2017;114:1-5 pubmed publisher
    ..43), while the most three internal controls for temperature treatment were Hdac3 (M=0.28), Wdr33 (M=0.32), and Hprt1 (M=0.39) among the ten candidates...
  44. Gasperini M, Findlay G, McKenna A, Milbank J, Lee C, Zhang M, et al. CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions. Am J Hum Genet. 2017;101:192-205 pubmed publisher
    ..We applied ScanDel to HPRT1, the housekeeping gene underlying Lesch-Nyhan syndrome, an X-linked recessive disorder...
  45. Yamada Y, Goto H, Ogasawara N. Identification of two independent Japanese mutant HPRT genes using the PCR technique. Adv Exp Med Biol. 1991;309B:121-4 pubmed
  46. Nguyen T, Vacek P, O Neill P, Colletti R, Finette B. Mutagenicity and potential carcinogenicity of thiopurine treatment in patients with inflammatory bowel disease. Cancer Res. 2009;69:7004-12 pubmed publisher
    ..by determining the frequency and spectra of somatic mutation events at the hypoxanthine phosphoribosyltransferase (HPRT) locus in peripheral T lymphocytes as well as the prevalence of mutant clonal proliferation in a cross-sectional ..
  47. Zampieri M, Ciccarone F, Guastafierro T, Bacalini M, Calabrese R, Moreno Villanueva M, et al. Validation of suitable internal control genes for expression studies in aging. Mech Ageing Dev. 2010;131:89-95 pubmed publisher
    ..e. 18s rRNA, ACTB, GAPDH, HPRT1 and GUSB, for stability of expression in samples from donors in the age range 35-74 years...
  48. Tschirner S, Gutzki F, Schneider E, Seifert R, Kaever V. Neurotransmitter and their metabolite concentrations in different areas of the HPRT knockout mouse brain. J Neurol Sci. 2016;365:169-74 pubmed publisher
    ..neurotransmitters and their metabolites in the cerebral hemisphere, cerebellum and the medulla oblongata of HPRT knockout mice, an animal model for LNS, in comparison to the corresponding wild-type...
  49. Freire J, Rego de Figueiredo I, Valle J, Veiga A, Andreu D, Enguita F, et al. siRNA-cell-penetrating peptides complexes as a combinatorial therapy against chronic myeloid leukemia using BV173 cell line as model. J Control Release. 2017;245:127-136 pubmed publisher
    ..BV173 cell cycle and cell proliferation monitoring different genes involved in housekeeping/cell stress (RPL13A, HPRT1), cell proliferation (ki67), cell apoptosis (Caspase 3 and Caspase 9) and cell cycle steps (CDK2, CCDN2, CDKN1A)...
  50. Jinnah H, Harris J, Nyhan W, O Neill J. The spectrum of mutations causing HPRT deficiency: an update. Nucleosides Nucleotides Nucleic Acids. 2004;23:1153-60 pubmed
    Mutations in the gene encoding hypoxanthine-guanine phosphoribosyltransferase (HPRT) cause Lesch-Nyhan disease, which is characterized by hyperuricemia, severe motor disability, and self-injurious behavior...
  51. Doughan S, Uddayasankar U, Krull U. A paper-based resonance energy transfer nucleic acid hybridization assay using upconversion nanoparticles as donors and quantum dots as acceptors. Anal Chim Acta. 2015;878:1-8 pubmed publisher
    ..The immobilized UCNPs were decorated with oligonucleotide probes to capture HPRT1 housekeeping gene fragments, which in turn brought reporter conjugated quantum dots (QDs) in close proximity to ..
  52. Torres R, Puente S, Menendez A, Fernandez Garcia N. Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency. Clin Chim Acta. 2017;472:136-138 pubmed publisher
    ..A new missense point mutation c.424 A>G (T142A) was found in the HPRT1 gene...
  53. Balendiran G, Molina J, Xu Y, Torres Martinez J, Stevens R, Focia P, et al. Ternary complex structure of human HGPRTase, PRPP, Mg2+, and the inhibitor HPP reveals the involvement of the flexible loop in substrate binding. Protein Sci. 1999;8:1023-31 pubmed
    Site-directed mutagenesis was used to replace Lys68 of the human hypoxanthine phosphoribosyltransferase (HGPRTase) with alanine to exploit this less reactive form of the enzyme to gain additional insights into the structure activity ..
  54. Keough D, Brereton I, de Jersey J, Guddat L. The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle. J Mol Biol. 2005;351:170-81 pubmed
    Human hypoxanthine-guanine phosphoribosyltransferase (HGPRT) catalyses the synthesis of the purine nucleoside monophosphates, IMP and GMP, by the addition of a 6-oxopurine base, either hypoxanthine or guanine, to the 1-beta-position of 5-..
  55. Bedayat B, Abdolmohamadi A, Ye L, Maurisse R, Parsi H, Schwarz J, et al. Sequence-specific correction of genomic hypoxanthine-guanine phosphoribosyl transferase mutations in lymphoblasts by small fragment homologous replacement. Oligonucleotides. 2010;20:7-16 pubmed publisher
    ..human lymphoblasts that contain a single base substitution in the hypoxanthine-guanine phosphoribosyl transferase (HPRT1) gene...
  56. Manshian B, Soenen S, Brown A, Hondow N, Wills J, Jenkins G, et al. Genotoxic capacity of Cd/Se semiconductor quantum dots with differing surface chemistries. Mutagenesis. 2016;31:97-106 pubmed publisher
    ..was evaluated and genotoxicity was characterised using the micronucleus assay (gross chromosomal damage) and the HPRT forward mutation assay (point mutagenicity)...
  57. Gravells P, Ahrabi S, Vangala R, Tomita K, Brash J, Brustle L, et al. Use of the HPRT gene to study nuclease-induced DNA double-strand break repair. Hum Mol Genet. 2015;24:7097-110 pubmed publisher
    ..a single endogenous reporter gene, the X-chromosomal disease gene encoding hypoxanthine phosphoribosyltransferase (HPRT), we monitor the relative utilization of three DSBR pathways following cleavage by I-SceI or CRISPR/Cas9 nucleases...
  58. Fischer J, Zubel T, Jander K, Fix J, Trussina I, Gebhard D, et al. PARP1 protects from benzo[a]pyrene diol epoxide-induced replication stress and mutagenicity. Arch Toxicol. 2018;92:1323-1340 pubmed publisher
    ..X foci. Consistently, an HPRT mutation assay revealed that PARP inhibition potentiated the mutagenicity of BPDE...
  59. Akerlund E, Cappellini F, Di Bucchianico S, Islam S, Skoglund S, Derr R, et al. Genotoxic and mutagenic properties of Ni and NiO nanoparticles investigated by comet assay, ?-H2AX staining, Hprt mutation assay and ToxTracker reporter cell lines. Environ Mol Mutagen. 2017;: pubmed publisher
    ..of various pathways of relevance for (geno)toxicity and cancer; and (3) mES cells followed by mutagenicity testing (Hprt assay)...
  60. Fujimori S, Sakuma R, Yamaoka N, Hakoda M, Yamanaka H, Kamatani N. An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans. Hum Genet. 1997;99:8-10 pubmed
    ..5 mg/dl) male showed 46% hemolysate and 37% lymphoblast hypoxanthine phosphoribosyltransferase (HPRT) activities but was otherwise completely free of symptoms...
  61. Shi W, Li C, Tyler P, Furneaux R, Grubmeyer C, Schramm V, et al. The 2.0 A structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor. Nat Struct Biol. 1999;6:588-93 pubmed
    The structure of human HGPRT bound to the transition-state analog immucillinGP and Mg2+-pyrophosphate has been determined to 2.0 A resolution...
  62. Cohen S, Brylawski B, Cordeiro Stone M, Kaufman D. Same origins of DNA replication function on the active and inactive human X chromosomes. J Cell Biochem. 2003;88:923-31 pubmed
    ..of DNA replication at the transcriptional promoter of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene (Cohen et al. [2002] J. Cell. Biochem. 85:346-356)...
  63. Liu X, Xie J, Liu Z, Gong Q, Tian R, Su G. Identification and validation of reference genes for quantitative RT-PCR analysis of retinal pigment epithelium cells under hypoxia and/or hyperglycemia. Gene. 2016;580:41-6 pubmed publisher
    ..Our findings confirm that HPRT1, GUSB and PPIA are the most suitable reference genes for RPE cell gene expression experiments subjected to hypoxia ..
  64. Lima L, Gaiteiro C, Peixoto A, Soares J, Neves M, Santos L, et al. Reference Genes for Addressing Gene Expression of Bladder Cancer Cell Models under Hypoxia: A Step Towards Transcriptomic Studies. PLoS ONE. 2016;11:e0166120 pubmed publisher
    ..Using bioinformatics tools (GeNorm and NormFinder), we have elected B2M and HPRT as the most stable genes for all cell lines and experimental conditions out of a panel of seven putative candidates ..
  65. Nguyen K, Nyhan W. Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease. Neurosci Lett. 2017;643:52-58 pubmed publisher
    ..LND) was performed and results indicated an epistasis between mutated hypoxanthine phosphoribosyltransferase1 (HPRT1) and APP genes...
  66. Kumar P, Hamza V, Mohankumar M, Jeevanram R. Studies on the HPRT mutant frequency in T lymphocytes from healthy Indian male population as a function of age and smoking. Mutat Res. 2004;556:107-16 pubmed
    Mutant frequency at the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene in the peripheral blood lymphocytes obtained from 44 healthy individuals (23 non-smokers and 21 smokers) of an Indian male population was studied using T-..
  67. Cauwels R, Martens L. Self-mutilation behaviour in Lesch-Nyhan syndrome. J Oral Pathol Med. 2005;34:573-5 pubmed
    ..X-linked genetic disorder involving (near) absence of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT). It occurs in 1:100,000 to 380,000 live births (1, 2)...
  68. Sharma S, Jiménez R, Aneja S, García M, Sethi G. Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene. Indian J Pediatr. 2012;79:1520-2 pubmed publisher
    ..Both the boys had undetectable hypoxanthine-guanine phosphoribosyl transferase activity in hemolysate, confirming the diagnosis of Lesch-Nyhan syndrome. Molecular genetic testing revealed a new mutation in the HPRT1 gene.
  69. Wilson J, Kelley W. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome. J Clin Invest. 1983;71:1331-5 pubmed
    We have investigated the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in a patient who presented with the Lesch-Nyhan syndrome...
  70. van Larebeke N, Koppen G, Nelen V, Schoeters G, Van Loon H, Albering H, et al. Differences in HPRT mutant frequency among middle-aged Flemish women in association with area of residence and blood lead levels. Biomarkers. 2004;9:71-84 pubmed
    ..Here, we report the hypoxanthine phosphoribosyltransferase gene (HPRT) variant frequencies for 99 non-smoking women aged 50-65 years...
  71. Wong H, Feber J, Chakraborty P, Drukker A, Filler G. Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure. Pediatr Nephrol. 2008;23:317-21 pubmed
    We report on a rare case of hypoxanthine guanine phosphoribosyl transferase (HGPRT) deficiency that presented in the newborn period with acute renal failure (ARF)...
  72. Ao L, Liu S, Yang M, Fong C, An H, Cao J. Acrylamide-induced molecular mutation spectra at HPRT locus in human promyelocytic leukaemia HL-60 and NB4 cell lines. Mutagenesis. 2008;23:309-15 pubmed publisher
    ..cells, HL-60 and NB4 cells, by examining the mutations at the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene locus...
  73. Ceballos Picot I, Le Dantec A, Brassier A, Jaïs J, Ledroit M, Cahu J, et al. New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients. Orphanet J Rare Dis. 2015;10:7 pubmed publisher
    ..HPRT1 gene leading to a deficiency of the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt)...
  74. Nagashima H, Shiraishi K, Ohkawa S, Sakamoto Y, Komatsu K, Matsuura S, et al. Induction of somatic mutations by low-dose X-rays: the challenge in recognizing radiation-induced events. J Radiat Res. 2017;:1-7 pubmed publisher
    ..By using a hypersensitive system for detecting somatic mutations at the HPRT1 locus, we investigated the frequency and spectrum of mutations induced by low-dose X-rays...
  75. Eads J, Scapin G, Xu Y, Grubmeyer C, Sacchettini J. The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP. Cell. 1994;78:325-34 pubmed
    The crystal structure of HGPRTase with bound GMP has been determined and refined to 2.5 A resolution...
  76. Guillot P, Liu L, Kuivenhoven J, Guan J, Rosenberg R, Aird W. Targeting of human eNOS promoter to the Hprt locus of mice leads to tissue-restricted transgene expression. Physiol Genomics. 2000;2:77-83 pubmed
    ..synthase (eNOS) promoter coupled to the LacZ reporter gene to the X-linked hypoxanthine phosphoribosyltransferase (Hprt) locus of mice by homologous recombination...
  77. Perera F, Hemminki K, Jedrychowski W, Whyatt R, Campbell U, Hsu Y, et al. In utero DNA damage from environmental pollution is associated with somatic gene mutation in newborns. Cancer Epidemiol Biomarkers Prev. 2002;11:1134-7 pubmed
    ..aromatic-DNA adducts and the frequency of gene mutations at the hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus in umbilical cord and maternal blood samples...
  78. García M, Torres R, Prior C, Puig J. Normal HPRT coding region in complete and partial HPRT deficiency. Mol Genet Metab. 2008;94:167-72 pubmed publisher
    ..inborn error of metabolism due to a virtually complete lack of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity (OMIM 300322)...
  79. Mastrangelo L, Kim J, Miyanohara A, Kang T, Friedmann T. Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase. Proc Natl Acad Sci U S A. 2012;109:3377-82 pubmed publisher
    Lesch-Nyhan disease (LND) is an X-linked genetic disorder caused by mutations of the hypoxanthine guanine phosphoribosyltransferase (HPRT) purine biosynthesis gene and characterized by aberrant purine metabolism, deficient basal ganglia ..
  80. Valadan R, Amjadi O, Tehrani M, Rafiei A, Hedayatizadeh Omran A, Alizadeh Navaei R. Pseudogene-free amplification of HPRT1 in quantitative reverse transcriptase polymerase chain reaction. Anal Biochem. 2015;485:46-8 pubmed publisher
    ..The accuracy of the results highly depends on careful selection of a reference gene for data normalization. HPRT1 (hypoxanthine phosphoribosyl transferase 1) is a frequently used housekeeping gene for normalizing relative ..
  81. Katarzyńska Banasik D, Grzesiak M, Sechman A. Selection of reference genes for quantitative real-time PCR analysis in chicken ovary following silver nanoparticle treatment. Environ Toxicol Pharmacol. 2017;56:186-190 pubmed publisher
    ..Eight genes were selected for the validation: HPRT, HMBS, VIM, SDHA, TBP, RPL13, GAPDH and 18S rRNA...
  82. St Pierre J, Gregoire J, Vaillancourt C. A simple method to assess group difference in RT-qPCR reference gene selection using GeNorm: The case of the placental sex. Sci Rep. 2017;7:16923 pubmed publisher
    ..To test this, we used 28 reference gene candidates, to analyze 20 placental samples (10 of each sex), and by using HPRT1 (lower Cq values in male placentas (P = 0.017)), as a target gene...
  83. Skopek T, Recio L, Simpson D, Dallaire L, Melancon S, Ogier H, et al. Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures. Hum Genet. 1990;85:111-6 pubmed
    The frequency of hprt mutants in peripheral blood T-lymphocytes of two putative Lesch-Nyhan individuals and their parents was determined by a cell cloning assay to quantify the frequency of thioguanine-resistant mutants...
  84. Pai G, Sprenkle J, Do T, Mareni C, Migeon B. Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation. Proc Natl Acad Sci U S A. 1980;77:2810-3 pubmed
    ..on the X chromosome, at the junction of Xq27-Xq28, separates the loci for hypoxanthine phosphoribosyltransferase (HPRT) and G6PD...
  85. Guibinga G, Hrustanovic G, Bouic K, Jinnah H, Friedmann T. MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: clues for Lesch-Nyhan disease?. Hum Mol Genet. 2012;21:609-22 pubmed publisher
    Mutations in the gene encoding the purine biosynthetic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) cause the intractable neurodevelopmental Lesch-Nyhan disease (LND) associated with aberrant development of brain dopamine ..
  86. Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Naiki M, et al. Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations. Nucleosides Nucleotides Nucleic Acids. 2011;30:1272-5 pubmed publisher
    Mutations of two enzyme genes, HPRT1 encoding hypoxanthine guanine phosphoribosyltransferase (HPRT) and PRPS1 encoding a catalytic subunit (PRS-I) of phosphoribosylpyrophosphate synthetase, cause X-linked inborn errors of purine ..
  87. Naesens L, Guddat L, Keough D, van Kuilenburg A, Meijer J, Vande Voorde J, et al. Role of human hypoxanthine guanine phosphoribosyltransferase in activation of the antiviral agent T-705 (favipiravir). Mol Pharmacol. 2013;84:615-29 pubmed publisher
    ..Which enzymes perform the activation of T-705 is unknown. We here demonstrate that human hypoxanthine guanine phosphoribosyltransferase (HGPRT) converts T-705 into its ribose-5'-monophosphate (RMP) prior to formation of T-705-RTP...
  88. Baba S, Saito T, Yamada Y, Takeshita E, Nomura N, Yamada K, et al. Novel mutation in HPRT1 causing a splicing error with multiple variations. Nucleosides Nucleotides Nucleic Acids. 2017;36:1-6 pubmed publisher
    ..by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), encoded by the HPRT1. To date, nearly all types of mutations have been reported in the whole gene; however, duplication mutations are ..
  89. Luo W, Galvan D, Woodard L, Dorset D, Levy S, Wilson M. Comparative analysis of chimeric ZFP-, TALE- and Cas9-piggyBac transposases for integration into a single locus in human cells. Nucleic Acids Res. 2017;45:8411-8422 pubmed publisher
    ..to the amino-terminus of the transposase enzyme designed to target the hypoxanthine phosphoribosyltransferase (HPRT) gene located on human chromosome X...
  90. Sculley D, Dawson P, Emmerson B, Gordon R. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Hum Genet. 1992;90:195-207 pubmed
    Hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) is a purine salvage enzyme that catalyses the conversion of hypoxanthine and guanine to their respective mononucleotides...
  91. Raman J, Sumathy K, Anand R, Balaram H. A non-active site mutation in human hypoxanthine guanine phosphoribosyltransferase expands substrate specificity. Arch Biochem Biophys. 2004;427:116-22 pubmed
    Human hypoxanthine guanine phosphoribosyltransferase (HGPRT) lacks the ability to phosphoribosylate xanthine, a property exhibited by HGPRTs from many parasitic protozoa...