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Gene Review

Hprt  -  hypoxanthine guanine phosphoribosyl...

Mus musculus

Synonyms: C81579, HGPRT, HGPRTase, HPGRT, HPRT B, ...
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Disease relevance of Hprt1


High impact information on Hprt1

  • DNA sequences have previously been identified in the first intron of the mouse Hprt gene that are methylated on the inactive but not the active X chromosome [6].
  • Methylation of the Hprt gene on the inactive X occurs after chromosome inactivation [6].
  • These data suggest that the inactive X-specific methylation of sequences such as those in the first intron of the Hprt gene does not play any role in the primary events of X-inactivation, but may function as part of a secondary, tissue-specific mechanism for maintaining the inactive state [6].
  • A specialized construct of the neomycin resistance (neor) gene was introduced into an exon of a cloned fragment of the Hprt gene and used to transfect ES cells [7].
  • We conclude from these properties that this mutant cell line contains an ochre nonsense mutation (UAA) in the structural gene for HGPRT [8].

Chemical compound and disease context of Hprt1


Biological context of Hprt1

  • They also confirm chromosomally the assignments of 3 genes that were made by other somatic cell genetic studies: Aprt to 8; Hprt and alpha-gal to the X chromosome [14].
  • Three of the probes map to the region between the centromere and Hprt, and two distal to Ta [15].
  • However, the mutagenic response in Xpc(-/-) mice was +/- 2-fold enhanced at both the Hprt and the Aprt gene compared to heterozygous controls, indicating that GGR at least partially removes DMBA adducts from the genome overall [16].
  • Using a set of defined mutations in the Hprt1 gene of mouse embryonic stem (ES) cells, we have systematically compared several PCR-based point mutation and deletion detection methods available for their ability to identify lesions in pooled samples, which is a major criterion for an efficient large-scale mutation screening assay [17].
  • Using a conditional mutant Xist allele, we provide direct evidence for that loss of Xist RNA destabilizes the inactive state in somatic cells, leading to an increased reactivation frequency of an X-linked GFP transgene and of the endogenous hypoxanthine phosphoribosyl transferase (Hprt) gene in mouse embryonic fibroblasts [18].

Anatomical context of Hprt1


Associations of Hprt1 with chemical compounds


Regulatory relationships of Hprt1


Other interactions of Hprt1


Analytical, diagnostic and therapeutic context of Hprt1


  1. Differential mutant quantitation at the mouse lymphoma tk and CHO hgprt loci. Moore, M.M., Harrington-Brock, K., Doerr, C.L., Dearfield, K.L. Mutagenesis (1989) [Pubmed]
  2. Enzymic capacities of purine de Novo and salvage pathways for nucleotide synthesis in normal and neoplastic tissues. Natsumeda, Y., Prajda, N., Donohue, J.P., Glover, J.L., Weber, G. Cancer Res. (1984) [Pubmed]
  3. Collateral sensitivity of 6-mercaptopurine-resistant sublines of P388 and L1210 leukemia to the new purine antagonists, 5-carbamoyl-1H-imidazol-4-yl piperonylate and 4-carbamoylimidazolium 5-olate. Inaba, M., Fukui, M., Yoshida, N., Tsukagoshi, S., Sakurai, Y. Cancer Res. (1982) [Pubmed]
  4. A Golgi study of neuronal architecture in a genetic mouse model for Lesch-Nyhan disease. Mikolaenko, I., Rao, L.M., Roberts, R.C., Kolb, B., Jinnah, H.A. Neurobiol. Dis. (2005) [Pubmed]
  5. Abnormal purine and pyrimidine nucleotide content in primary astroglia cultures from hypoxanthine-guanine phosphoribosyltransferase-deficient transgenic mice. Pelled, D., Sperling, O., Zoref-Shani, E. J. Neurochem. (1999) [Pubmed]
  6. Methylation of the Hprt gene on the inactive X occurs after chromosome inactivation. Lock, L.F., Takagi, N., Martin, G.R. Cell (1987) [Pubmed]
  7. Site-directed mutagenesis by gene targeting in mouse embryo-derived stem cells. Thomas, K.R., Capecchi, M.R. Cell (1987) [Pubmed]
  8. The isolation of a suppressible nonsense mutant in mammalian cells. Capecchi, M.R., Haar, R.A., Capecchi, N.E., Sveda, M.M. Cell (1977) [Pubmed]
  9. Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease. Jinnah, H.A., Jones, M.D., Wojcik, B.E., Rothstein, J.D., Hess, E.J., Friedmann, T., Breese, G.R. J. Neurochem. (1999) [Pubmed]
  10. Lymphocyte Hprt mutant frequency and sperm toxicity in C57BL/6 mice treated chronically with Azathioprine. Bendre, S.V., Shaddock, J.G., Patton, R.E., Dobrovolsky, V.N., Albertini, R.J., Heflich, R.H. Mutat. Res. (2005) [Pubmed]
  11. Oxidative stress and dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. Visser, J.E., Smith, D.W., Moy, S.S., Breese, G.R., Friedmann, T., Rothstein, J.D., Jinnah, H.A. Brain Res. Dev. Brain Res. (2002) [Pubmed]
  12. Final report on the safety assessment of octoxynol-1, octoxynol-3, octoxynol-5, octoxynol-6, octoxynol-7, octoxynol-8, octoxynol-9, octoxynol-10, octoxynol-11, octoxynol-12, octoxynol-13, octoxynol-16, octoxynol-20, octoxynol-25, octoxynol-30, octoxynol-33, octoxynol-40, octoxynol-70, octoxynol-9 carboxylic acid, octoxynol-20 carboxylic acid, potassium octoxynol-12 phosphate, sodium octoxynol-2 ethane sulfonate, sodium octoxynol-2 sulfate, sodium octoxynol-6 sulfate, and sodium octoxynol-9 sulfate. Johnson, W. International journal of toxicology. (2004) [Pubmed]
  13. Frequency of 6-thioguanine-resistant T cells is inversely related to the declining T-cell activities in aging mice. Inamizu, T., Kinohara, N., Chang, M.P., Makinodan, T. Proc. Natl. Acad. Sci. U.S.A. (1986) [Pubmed]
  14. Gene mapping in Mus musculus by interspecific cell hybridization: assignment of the genes for tripeptidase-1 to chromosome 10, dipeptidase-2 to chromosome 18, acid phosphatase-1 to chromosome 12, and adenylate kinase-1 to chromosome 2. Francke, U., Lalley, P.A., Moss, W., Ivy, J., Minna, J.D. Cytogenet. Cell Genet. (1977) [Pubmed]
  15. Mapping of the mouse X chromosome using random genomic probes and an interspecific mouse cross. Amar, L.C., Arnaud, D., Cambrou, J., Guenet, J.L., Avner, P.R. EMBO J. (1985) [Pubmed]
  16. DMBA-induced toxic and mutagenic responses vary dramatically between NER-deficient Xpa, Xpc and Csb mice. Wijnhoven, S.W., Kool, H.J., Mullenders, L.H., Slater, R., van Zeeland, A.A., Vrieling, H. Carcinogenesis (2001) [Pubmed]
  17. Comparison of PCR-based mutation detection methods and application for identification of mouse Sult1a1 mutant embryonic stem cell clones using pooled templates. Greber, B., Tandara, H., Lehrach, H., Himmelbauer, H. Hum. Mutat. (2005) [Pubmed]
  18. Synergism of Xist RNA, DNA methylation, and histone hypoacetylation in maintaining X chromosome inactivation. Csankovszki, G., Nagy, A., Jaenisch, R. J. Cell Biol. (2001) [Pubmed]
  19. Studies on the mechanism of 3-deazaguanine cytotoxicity in L1210-sensitive and -resistant cell lines. Singh, G., Luna, M.K., Ardalan, B. Cancer Chemother. Pharmacol. (1988) [Pubmed]
  20. Frequency of Tk and Hprt lymphocyte mutants and bone marrow micronuclei in B6C3F(1)/Tk+/- mice treated neonatally with zidovudine and lamivudine. Von Tungeln, L.S., Hamilton, L.P., Dobrovolsky, V.N., Bishop, M.E., Shaddock, J.G., Heflich, R.H., Beland, F.A. Carcinogenesis (2002) [Pubmed]
  21. Elevated levels of erythrocyte hypoxanthine phosphoribosyltransferase associated with allelic variation of murine Hprt. Johnson, G.G., Larsen, T.A., Blakely, P., Chapman, V.M. Biochemistry (1985) [Pubmed]
  22. Tk+/- mouse model for detecting in vivo mutation in an endogenous, autosomal gene. Dobrovolsky, V.N., Casciano, D.A., Heflich, R.H. Mutat. Res. (1999) [Pubmed]
  23. Characterization of a panel of somatic cell hybrids for regional mapping of the mouse X chromosome. Avner, P., Arnaud, D., Amar, L., Cambrou, J., Winking, H., Russell, L.B. Proc. Natl. Acad. Sci. U.S.A. (1987) [Pubmed]
  24. Targeted disruption of the inosine 5'-monophosphate dehydrogenase type I gene in mice. Gu, J.J., Tolin, A.K., Jain, J., Huang, H., Santiago, L., Mitchell, B.S. Mol. Cell. Biol. (2003) [Pubmed]
  25. Transfer of purine metabolites between cells through the medium and via cell contacts in cocultures of HGPRT+ and HGPRT- cells. Bols, N.C., Mosser, D.D., Boliska, S.A. Exp. Cell Res. (1987) [Pubmed]
  26. Carcinogen-induced loss of heterozygosity at the Aprt locus in somatic cells of the mouse. Wijnhoven, S.W., Van Sloun, P.P., Kool, H.J., Weeda, G., Slater, R., Lohman, P.H., van Zeeland, A.A., Vrieling, H. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  27. Procarbazine is a potent mutagen at the heterozygous thymidine kinase (tk +/-) locus of mouse lymphoma assay. Clive, D., Turner, N., Krehl, R. Mutagenesis (1988) [Pubmed]
  28. A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2. Collignon, J., Sockanathan, S., Hacker, A., Cohen-Tannoudji, M., Norris, D., Rastan, S., Stevanovic, M., Goodfellow, P.N., Lovell-Badge, R. Development (1996) [Pubmed]
  29. Inhibition of T lymphocyte activation in mice heterozygous for loss of the IMPDH II gene. Gu, J.J., Stegmann, S., Gathy, K., Murray, R., Laliberte, J., Ayscue, L., Mitchell, B.S. J. Clin. Invest. (2000) [Pubmed]
  30. Age-dependent spontaneous mutagenesis in Xpc mice defective in nucleotide excision repair. Wijnhoven, S.W., Kool, H.J., Mullenders, L.H., van Zeeland, A.A., Friedberg, E.C., van der Horst, G.T., van Steeg, H., Vrieling, H. Oncogene (2000) [Pubmed]
  31. A gammaGT-AT1A receptor transgene protects renal cortical structure in AT1 receptor-deficient mice. Le, T.H., Oliverio, M.I., Kim, H.S., Salzler, H., Dash, R.C., Howell, D.N., Smithies, O., Bronson, S., Coffman, T.M. Physiol. Genomics (2004) [Pubmed]
  32. Adenine phosphoribosyltransferase and hypoxanthine-guanine phosphoribosyltransferase immunoprecipitation reactions in human-mouse and human-hamster cell hybrids. Held, K.R., Kahan, B., DeMars, R. Humangenetik. (1975) [Pubmed]
  33. Microdissection and microcloning of the mouse X chromosome. Fisher, E.M., Cavanna, J.S., Brown, S.D. Proc. Natl. Acad. Sci. U.S.A. (1985) [Pubmed]
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