Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.4.2.8 (hypoxanthine-guanine phosphoribosyltransferase)
 2,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A somatic cell hybrid containing a single human X chromosome bearing the Xq27 fragile site was lethally irradiated and re-hybridized to its HPRT- Chinese hamster parent. One of 24 colonies surviving selection for HPRT was found to have retained human G6PD but not PGK. This line, X3000-11, which shows Xq24-qter translocated to a hamster chromosome by trypsin G-banding and a single human chromatin fragment corresponding to this segment of the X by G-11 staining, expresses the fragile site on exposure to 5-fluorodeoxyuridine. Dot blots using total human DNA suggest that X3000-11 retains approximately 0.2% of the human genome. By Southern blotting, X3000-11 retains Factor IX, DXS11 and DXS42 but lacks DXYS1, DXS3 and DXS17. This hybrid is being used to construct a cosmid library in the vector pCOS2 from which a sub-library of 500-1000 clones of human origin will be isolated using in vivo recombination with cloned Alu and Kpn family repeats. Such a sub-library will greatly facilitate chromosome walking to the fragile site as well as the testing of individual clones for their ability to create a folate-sensitive fragile site by DNA transfer into permissive Chinese hamster recipient cells.
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PMID:A rodent-human hybrid containing Xq24-qter translocated to a hamster chromosome expresses the Xq27 folate-sensitive fragile site. 293

Two hypoxanthine phosphoribosyltransferase-deficient human cell lines, D98/AH-2 and HT1080-6TG, were stably transfected with pSV2 gpt, a plasmid containing the selectable marker Escherichia coli xanthine-guanine phosphoribosyl transferase (Eco gpt). Hypoxanthine-aminopterin-thymidine-resistant transformants arose with a frequency of ca. 10(-6) and contained mostly single, but occasionally multiple, copies of the plasmid sequences. These transformants actively express the Eco gpt marker. Single chromosomes from two different HT1080 gpt transformants and one D98 gpt transformant, containing the integrated plasmid sequences, were transferred via microcell-mediated chromosome transfer to hypoxanthine phosphoribosyl transferase-deficient mouse A9 cells. The transferred human chromosomes were identified as 2, 4, and 22, by using a combination of G-11 staining, G-banding, isoenzyme analysis, and in situ hybridization. This system is being used to create a library of interspecies microcell hybrid clones, each clone containing a unique single human chromosome in a mouse background. The complete library will represent the entire human karyotype.
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PMID:Selective transfer of individual human chromosomes to recipient cells. 398 14