Human hypoxanthine-guanine

P5. Patel, P. I., Caskey, C. T., and Chinault, C. A., Fine structure of the human hypoxanthine guanine phosphoribosyltransferase gene. Mol. Cell. Biol. 6,393-403 (1986),... 

B.L. Davidson, M. Pashmforoush, W.N. Kelley, and T.D. Palella. 1989. Human hypoxanthine-guanine phosphoribosyltransferase deficiency The molecular defect in a patient with gout (HPRTAshville) J. Biol. Chem. 264 520-525. (PubMed)... 

Examples of Missense Mutations That Alter Human Hypoxanthine-Guanine Phosphoribsoyl-Transferase (HPRT) and Cause Lesch-Nyhan Syndrome (LN) or Gout... 

Ol, Olsen, A. S., and Milman, C., Subunit molecular weight of human hypoxanthine guanine phosphoribosyltransferase. J. Bid. Chem. 249, 4038-4040 (1974). 

J. M. Wilson, B. W. Baugher, P. M. Mattes, P. E. Daddona, W. N. Kelley. Human hypoxanthine-guanine phosphoribosyltransferase. Cells derived from patients with a deficiency of the enzyme. 

Arnold, W. J. and Kelley, W. N. 1971. Human hypoxanthine-guanine phosphoribosyltransferase Purification and subunit structure. J. Biol. Chem. 7398-7404. 

HUMAN HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE (HGPRT) PURIFICATION AND PROPERTIES... 

Kelley, W.N. and Arnold, W.J. Human hypoxanthine-guanine phosphoribosyltransferase Studies on the normal and mutant forms of the enzyme. Fed. Proc. (in press). 

Cesnek et al. reported the synthesis of a series of linear allqrl and all loxyall l phosphonates (9-phosphonoallqrl and 9-phosphonoalko)gr-all l) purines (59). Studies showed that these compounds act as inhibitors of Plasmodium falciparum, Plasmodium vivax and human hypoxanthine-guanine-(xanthine) phosphororibosyltransferases. 

The role of hypoxanthine-guanine phosphoribosyltransferase in purine salvage has been confirmed by the abnormally high excretion of purines (as uric acid) in humans who lack hypoxanthine-guanine phosphoribosyltransferase. Studies of purine metabolism in cultures of cells from patients with this hereditary disorder also support this conclusion. 

Single dose cynomolgus monkeys Repeat dose mice, rats, cynomolgus monkeys Fertility and early embryonic development rats Developmental rats, mice, rabbits Prenatal and postnatal development rats Genetic toxicology Ames reverse mutation, Chinese hamster ovary hypoxanthine guanine phosphoribosyl-transferase forward point mutation assay, cytogenetics in human lymphocytes... 

Purines are degraded to urate in human beings. Gout, a disease that affects joints and leads to arthritis, is associated with the excessive accumulation of urate. The Lesch-Nyhan syndrome, a genetic disease characterized by self-mutilation, mental deficiency, and gout, is caused by the absence of hypoxanthine-guanine phosphoribosyltransferase. This enzyme is essential for the synthesis of purine nucleotides by the salvage pathway. 

Bl. Bakay, B., and Nyhan, W. L., Heterogeneity of hypoxanthine guanine phospho-ribosyl transferase from human erythrocytes. Arch. Biochem. Biophys. 168, 26-34... 

Keough, D. T., Ng, A. L., Winzor, D. J., Emmerson, B. T., and de Jersey, J. (1999). Purification and characterization of Plasmodium falciparum hypoxanthine-guanine-xan thine phosphoribosyl-transferase and comparison with the human enzyme. Mol. Biochem. Parasitol. 98,29-41. 

Mbewe, B., Chibale, K., and McIntosh, D. B. (2007). Purification of human malaria parasite hypoxanthine guanine xanthine phosphoribosyltransferase (HGXPRT) using immobilized Reactive Red 120. Protein Expr. Purif. 52,153-158. 

HG-OES hydride generation optical emission spectrometry (see HG-AES) HGPRT-test hypoxanthine-guanine-phos-pho-ribosyl-transferase test, a mutagenicity test with mammalian cells HHPN hydraulic high pressure nebulizer HIV human immunodeficiency virus HMDE hanging mercury drop electrode... 

F7. Fujimoto, W. Y., and Seegmiller, ). E., Hypoxanthine guanine phosphoribosyl-transferase defidency activity in normal mutant and heterozygote cultured human sldn fibroblasts. Proc. Nat. Acad. Set. U.S. 65, 577 (1970). 

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