DNA repair enzyme deficiency and in vitro complementation of the enzyme activity in cell-free extracts from ataxia telangiectasia fibroblasts.
Three ataxia telangiectasia homozygotes, one heterozygote and normal fibroblast strains were compared as to the capacity of their cellular extracts to enhance the priming activity of gamma-irradiated colicin E1 DNA for purified DNA polymerase (EC 2.7.7.7) of Escherichia coli. It was found that homozygotes had substantially lower activity than normal strains, while no difference was detected between the heterozygote and normal strains. In vitro complementation of the activity occurred between extracts of certain strains of homozygotes, allocating them to two complementation groups.
D001260:Ataxia Telangiectasia / Q000201:enzymology* / Q000235:genetics; D002474:Cell-Free System; D004247:DNA / Q000528:radiation effects; D004256:DNA Polymerase I / Q000378:metabolism; D004260:DNA Repair; D003851:Deoxyribonucleases / Q000378:metabolism*; D004720:Endonucleases / Q000378:metabolism*; D004926:Escherichia coli / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology; D005720:Gamma Rays; D006579:Heterozygote; D006720:Homozygote; D006801:Humans
D004247:DNA; D004256:DNA Polymerase I; D003851:Deoxyribonucleases; D004720:Endonucleases; C031714:primer activating enzymes