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)

Deficiency of uridine-5'-monophosphate (UMP) synthase in dairy cattle, a condition analogous to human hereditary orotic aciduria, is reviewed with consideration of similarities and differences between the enzyme deficiency in humans and cattle. New findings regarding the bovine condition are reported including presence of the enzyme deficiency in numerous tissues and absence of substantial effects on other aspects of nucleotide metabolism. Specifically, erythrocyte concentration of phosphoribosylpyrophosphate (PRPP) and activities of PRPP synthetase, adenine phosphoribosyltransferase, and hypoxanthine-guanine phosphoribosyltransferase appear to be normal in cattle heterozygous for UMP synthase deficiency.
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PMID:Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria. 244 44

A hybrid cell line of clonal origin has been obtained by cocultivation of two biochemically marked human cell strains. One parental line is diploid and derived from a male infant with orotic aciduria, a rare autosomal recessive disease. This line has deficient activity for the final two enzymes in the biosynthetic pathway leading to uridylic acid and possesses the B electrophoretic type of glucose-6-phosphate dehydrogenase. The other parental line (D98/AH-2) is heteroploid, is resistant to 8-azahypoxanthine, and has deficient inosinic acid pyrophosphorylase activity. It displays the A(+) variant of glucose-6-phosphate dehydrogenase. The A(+) and B types of this dehydrogenase are known to be determined by allelic, sex-linked, Mendelian genes. The cloned hybrid cells exhibit genetic traits of both parents: (1) Their modal chromosome number is approximately the sum of those of the two parental lines; (2) they have levels of activity for both enzymes affected by the gene for orotic aciduria which are intermediate between those of the two parental lines; (3) they have higher activity than the D98/AH parent for inosinic acid pyrophosphorylase; (4) they have both A(+) and B isozyme bands of glucose-6-phosphate dehydrogenase. These hybrid cells represent the first known example of a cloned line of mammalian origin in which two X-linked allelic genes function.
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PMID:Hybridization of two biochemically marked human cell lines. 525 9