HPRT gene

Brooks EM et aJ Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease. Mutat Res 2001 476 43. 

Oiler, A.R. and Thilly, W.G. (1992). Mutational spectra in human jS-cells. Spontaneous, oxygen and hydrogen peroxide-induced mutations at the hprt gene. J. Mol. Biol. 228, 813-826. 

Polyglutamine repeat 146 unit CAG repeat inserted in hprt gene -... 

In vitro in animal cells, DNA repair and hprt gene mutations were induced by 1,2-di-chloroethane. Cell transformation was observed in Syrian hamster embryo cells in a single study but not in two independent studies with BALB/c-3T3 cells. 1,2-Dichloro-ethane induced gene mutations in human lymphoblastoid cell lines. 

Miller AD, Jolly DJ, Friedmann T, Verma IM. 1983. A transmissible retrovirus expressing human hypoxanthine phosphoribosyltransferase (HPRT) Gene transfer into cells obtained from human deficient in HPRT. Proc Nat Acad Sci USA. 80 4709-4713. 

Doetschman, T., Gregg, R G., Maeda, N., Hooper, M. L., Melton, D. W., Thompson, S., et al. (1987) Targetted correction of a mutant HPRT gene in mouse embryonic stem cells. Nature 330, 576-578. 

Human pedigree studies of families with Lesch-Nyhan syndrome (Seegmiller et al., 1976) showed that the HPRT gene was X-linked, and this was confirmed by analysis of human-mouse cell hybrids which had lost most of their human chromosomes (Ricciuiti and Ruddle, 1973). 

Lesch-Nyhan syndrome HPRT gene (knockout) 1,2... 

HPRT L5178Y mouse lymphoma CHO, V79, CHL, AS52. Tested in AHH-1, MCL-5, and TK6 human lymphoblastoids Gene mutations Any mutation inferred on the X-linked HPRT gene Screening, hazard identification... 

Johnson GE (2012) Mammalian cell HPRT gene mutation assay test methods. Methods Mol Biol 817 55-67... 

Maher VM, McCormick JJ (1996) The HPRT gene as a model system formulation analysis. In Pfeifer GP (ed) Technologies for detection of DNA damage and mutations. Plenum, New York, pp 381-90... 

Dobrovolsky, V. N., Chen, X, and Heflich, R. H. (1999b). Molecular analysis of in vivo mutations induced by V-ethyl-V-nitrosourea in the autosomal Xk and the X-linked Hprt genes of mouse lymphocytes. Environ Mol Mutagen 34, 30-38. 

W.M. (2003) Mutations induced by (-)-anti-llR,12S-dihydrodiol 13 S,1477-epoxide of dibenzo[a,7]pyrene in the coding region of the hypoxanthine phosphoribosyltransferase (Hprt) gene in Chinese hamster V79 cells. Environ. Mol. Mutagen., 41, 131-139. 

Chen, R.H., Maher, V.M., and McCormick, J.J. (1990) Effed of exdsion repair by diploid human fibroblasts on the kinds and locations of mutations induced by ( )-7(3,8cx-dihydroxy-9a,10a-epoxy-7,8,9,10-tetrahydrobenzo[a]pyrene in the coding region of the HPRT gene. Proc. Natl. Acad. Sci. USA, 87, 8680-8684. 

Clark, D. R., Zacharias, W., Panaitescu, L., and McGregor, W. G. (2003). Ribozyme-mediated REVl inhibition reduces the frequency of UV-induced mutations in the human HPRT gene. Nucleic Adds Res. 31, 4981-4988. 

Flemish women (N = 99) living near Antwerp HPRT gene variant frequencies versus urbanization and PbB HPRT gene mutation rates correlated with PbB levels Van Larebeke et al. (2004)... 

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