title: Intragenic interspecific complementation of glucose 6-phosphate dehydrogenase in human-hamster cell hybrids.
abstract: A new variant of human glucose 6-phosphate dehydrogenase (G6PD), provisionally designated G6PD Harilaou, was observed in a Greek boy affected by severe hemolytic anemia. G6PD Harilaou was associated with very severe deficiency of enzyme activity, which measured about 1% of normal in the patient's fibroblasts. By fusion of Harilaou fibroblasts with a similarly enzyme-deficient mutant CHO cell line, we have isolated a hybrid cell line that has a G6PD activity 5-10 times higher than either of the parental cells. By electrophoretic analysis we show that most of this activity is associated with a hybrid dimeric G6PD molecule consisting of one hamster and one human subunit. We suggest that this heterologous quasi-interallelic complementation is effected by a catalytically abnormal hamster subunit stabilizing a catalytically abnormal and unstable Harilaou subunit. This approach may be useful for the study of dimer formation and stability in human G6PD.
authors.affiliation: Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom.
authors.forename: M
authors.initials: M
authors.lastname: Town
authors.forename: M
authors.initials: M
authors.lastname: Athanasiou-Metaxa
authors.forename: L
authors.initials: L
authors.lastname: Luzzatto
mesh_terms: D000483:Alleles; D000818:Animals; D002460:Cell Line; D006224:Cricetinae; D003412:Cricetulus; D004247:DNA / Q000032:analysis / Q000235:genetics*; D004262:DNA Restriction Enzymes; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000201:enzymology; D015870:Gene Expression; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D006822:Hybrid Cells / Q000032:analysis / Q000166:cytology / Q000201:enzymology; D015151:Immunoblotting; D007150:Immunohistochemistry; D010053:Ovary / Q000166:cytology / Q000201:enzymology; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D012333:RNA, Messenger; D004247:DNA; D005954:Glucosephosphate Dehydrogenase; D004262:DNA Restriction Enzymes