title: Pyrimidine 5'-nucleotidase activity in normal and deficient human lymphoblastoid cells.
abstract: Two distinct pyrimidine 5'-nucleotidases (UMPH-1 and UMPH-2) have previously been detected in human erythrocytes; UMPH-1 is deficient in a haemolytic anaemia, while UMPH-2 is unaffected. Only the erythrocyte shows pathological effects in this disorder. Here we have studied lymphoblastoid cell lines from control and UMPH-1 deficient patients to determine whether UMPH-1 can be detected in lymphoblastoid cells and whether the deficiency of UMPH-1 results in any measurable metabolic effects. Both UMPH-1 and a UMPH-2-like activity were found to be present in control lymphoblastoid cells. UMPH-1 was undetectable in the patients' cells; minor but significant changes were found in the pyrimidine nucleotide and nucleoside pools in the cells.
authors: MRC Human Biochemical Genetics Unit, University College, London, UK.
authors: D A
authors: DA
authors: Hopkinson
authors: D M
authors: DM
authors: Swallow
authors: A
authors: A
authors: Marinaki
authors: E H
authors: EH
authors: Harley
mesh_terms: D015720:5'-Nucleotidase / Q000172:deficiency* / Q000235:genetics; D002461:Cell Line, Transformed; D002851:Chromatography, High Pressure Liquid; D002852:Chromatography, Ion Exchange; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006579:Heterozygote; D006801:Humans; D008214:Lymphocytes / Q000201:enzymology*; D008297:Male; D009711:Nucleotides / Q000032:analysis; D011742:Pyrimidine Nucleotides / Q000032:analysis; D014544:Uridine Triphosphate / Q000032:analysis
chemical_list: D009711:Nucleotides; D011742:Pyrimidine Nucleotides; D015720:5'-Nucleotidase; D014544:Uridine Triphosphate