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Gene Review

Aprt  -  adenine phosphoribosyl transferase

Mus musculus

Synonyms: APRT, Adenine phosphoribosyltransferase, C85684
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Disease relevance of Aprt


Psychiatry related information on Aprt

  • In contrast, we found neither any self-injurious behavior (SIB), such as visible injury or hair loss, nor any apparent decrease in APRT activity in HPRT-deficient mice treated with 9-EA [6].

High impact information on Aprt

  • Mouse aprt- cells were transformed to the aprt+ phenotype with the product of ligation of Hind III-cleaved hamster genomic DNA and pBR322 DNA [7].
  • In this manner, the aprt gene was linked to a marked plasmid sequence and segregated from other hamster sequences [7].
  • A lambda-recombinant phage containing pBR322 DNA sequences was isolated from a library of aprt+ transformed cell DNA [7].
  • Furthermore, sequences homologous to this clone are present in all hamster aprt+ transformants examined [7].
  • Here we report the fate in mice of an in vitro-methylated adenine phosphoribosyltransferase transgene [8].

Chemical compound and disease context of Aprt


Biological context of Aprt


Anatomical context of Aprt

  • To determine the types of mutations that can occur within an endogenous gene lacking highly susceptible repeat sequences, we examined mutagenic events at the 2.3 kb mouse Aprt gene in kidney cell lines derived from mice deficient for the PMS2 and MLH1 mismatch repair proteins [15].
  • The Aprt mutation rate was increased 33-fold and 3.6-20-fold for Mlh1 and Pms2 null cell lines, respectively, when compared with a wild-type kidney cell line [15].
  • We report the identification of a mouse kidney epithelial cell line (K435) in which G:C-->C:G transversion mutations occur at an elevated rate and are the predominant spontaneous events observed at the selectable Aprt locus [16].
  • Red blood cells of HPRT A and B mice have similar levels of adenine phosphoribosyltransferase activity (APRT; EC and reticulocyte percentages, which suggests that the elevated levels of HPRT in erythrocytes of HPRT A mice are not secondary consequences of abnormal erythroid cell development [17].
  • Leishmania donovani singly deficient in HGPRT, APRT or XPRT are viable in vitro and within mammalian macrophages [18].

Associations of Aprt with chemical compounds


Physical interactions of Aprt

  • Therefore, the Sp1 binding sites comprising the mouse aprt promoter have evolved two distinct functions, one to promote transcription and the other to block epigenetic inactivation [21].

Regulatory relationships of Aprt


Other interactions of Aprt


Analytical, diagnostic and therapeutic context of Aprt


  1. Silencing of mouse Aprt is a gradual process in differentiated cells. Yates, P.A., Burman, R., Simpson, J., Ponomoreva, O.N., Thayer, M.J., Turker, M.S. Mol. Cell. Biol. (2003) [Pubmed]
  2. Sequential analysis of kidney stone formation in the Aprt knockout mouse. Evan, A.P., Bledsoe, S.B., Connors, B.A., Deng, L., Liang, L., Shao, C., Fineberg, N.S., Grynpas, M.D., Stambrook, P.J., Youzhi, S., Sahota, A., Tischfield, J.A. Kidney Int. (2001) [Pubmed]
  3. Molecular mechanisms of mutagen hypersensitivity in adenine phosphoribosyl transferase-deficient Friend mouse erythroleukaemia cells. Yadollahi-Farsani, M., McKenna, P.G., McKelvey-Martin, V.J. Br. J. Biomed. Sci. (1997) [Pubmed]
  4. Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants. Stambrook, P.J., Dush, M.K., Trill, J.J., Tischfield, J.A. Somat. Cell Mol. Genet. (1984) [Pubmed]
  5. 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]
  6. No self-injurious behavior was found in HPRT-deficient mice treated with 9-ethyladenine. Edamura, K., Sasai, H. Pharmacol. Biochem. Behav. (1998) [Pubmed]
  7. Isolation of transforming DNA: cloning the hamster aprt gene. Lowy, I., Pellicer, A., Jackson, J.F., Sim, G.K., Silverstein, S., Axel, R. Cell (1980) [Pubmed]
  8. Demethylation of CpG islands in embryonic cells. Frank, D., Keshet, I., Shani, M., Levine, A., Razin, A., Cedar, H. Nature (1991) [Pubmed]
  9. Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. Engle, S.J., Stockelman, M.G., Chen, J., Boivin, G., Yum, M.N., Davies, P.M., Ying, M.Y., Sahota, A., Simmonds, H.A., Stambrook, P.J., Tischfield, J.A. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  10. A role for certain mouse Aprt sequences in resistance to toxic adenine analogs. Khattar, N.H., Turker, M.S. Somat. Cell Mol. Genet. (1997) [Pubmed]
  11. Molecular and biochemical elucidation of a cellular phenotype characterized by adenine analogue resistance in the presence of high levels of adenine phosphoribosyltransferase activity. Khattar, N.H., Cooper, G.E., DiMartino, D.L., Bishop, P.L., Turker, M.S. Biochem. Genet. (1992) [Pubmed]
  12. Chromosome instability contributes to loss of heterozygosity in mice lacking p53. Shao, C., Deng, L., Henegariu, O., Liang, L., Stambrook, P.J., Tischfield, J.A. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  13. Biallelic methylation and silencing of mouse Aprt in normal kidney cells. Rose, J.A., Yates, P.A., Simpson, J., Tischfield, J.A., Stambrook, P.J., Turker, M.S. Cancer Res. (2000) [Pubmed]
  14. Determination of spontaneous loss of heterozygosity mutations in Aprt heterozygous mice. Van Sloun, P.P., Wijnhoven, S.W., Kool, H.J., Slater, R., Weeda, G., van Zeeland, A.A., Lohman, P.H., Vrieling, H. Nucleic Acids Res. (1998) [Pubmed]
  15. Multiple mutations are common at mouse Aprt in genotoxin-exposed mismatch repair deficient cells. Shin, C.Y., Mellon, I., Turker, M.S. Oncogene (2002) [Pubmed]
  16. A mouse kidney cell line with a G:C --> C:G transversion mutator phenotype. Shin, C.Y., Ponomareva, O.N., Connolly, L., Turker, M.S. Mutat. Res. (2002) [Pubmed]
  17. 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]
  18. Leishmania donovani singly deficient in HGPRT, APRT or XPRT are viable in vitro and within mammalian macrophages. Boitz, J.M., Ullman, B. Mol. Biochem. Parasitol. (2006) [Pubmed]
  19. 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]
  20. Concurrent development of resistance to 6-azauridine and adenosine in a mouse cell line. Hashmi, S., May, S.R., Krooth, R.S., Miller, O.J. J. Cell. Physiol. (1975) [Pubmed]
  21. The primary function of a redundant Sp1 binding site in the mouse aprt gene promoter is to block epigenetic gene inactivation. Mummaneni, P., Yates, P., Simpson, J., Rose, J., Turker, M.S. Nucleic Acids Res. (1998) [Pubmed]
  22. New antitumor imidazole derivative, 5-carbamoyl-1H-imidazol-4-yl piperonylate, as an inhibitor of purine synthesis and its activation by adenine phosphoribosyltransferase. Fukui, M., Inaba, M., Tsukagoshi, S., Sakurai, Y. Cancer Res. (1982) [Pubmed]
  23. Loss of heterozygosity and point mutation at Aprt locus in T cells and fibroblasts of Pms2-/- mice. Shao, C., Yin, M., Deng, L., Stambrook, P.J., Doetschman, T., Tischfield, J.A. Oncogene (2002) [Pubmed]
  24. The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region. Montaño, A.M., Yamagishi, A., Tomatsu, S., Fukuda, S., Copeland, N.G., Orii, K.E., Isogai, K., Yamada, N., Kato, Z.I., Jenkins, N.A., Gilbert, D.J., Sukegawa, K., Orii, T., Kondo, N. Biochim. Biophys. Acta (2000) [Pubmed]
  25. Radiation-induced genetic instability in vivo depends on p53 status. Liang, L., Shao, C., Deng, L., Mendonca, M.S., Stambrook, P.J., Tischfield, J.A. Mutat. Res. (2002) [Pubmed]
  26. 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]
  27. Assignment of the gene for adenine phosphoribosyltransferase on the genetic map of mouse chromosome 8. Nesterova, T.B., Borodin, P.M., Zakian, S.M., Serov, O.L. Biochem. Genet. (1987) [Pubmed]
  28. In vivo loss of heterozygosity in T-cells of B6C3F1 Aprt(+/-) mice. Liang, L., Deng, L., Shao, C., Stambrook, P.J., Tischfield, J.A. Environ. Mol. Mutagen. (2000) [Pubmed]
  29. 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]
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