DNA polymerases alpha beta and gamma in inherited diseases affecting DNA repair.
Fibroblasts derived from patients with diseases affecting DNA repair processes, such as Xeroderma Pigmentosum (classical and variant), Fanconi's anemia, Bloom's syndrome, Ataxia Telangiectasica, Progeria and Werner's syndrome, were assayed for the three DNA polymerases. The specific activities of these enzymes were found within the limits observed in normal human fibroblasts. Also the sedimentation properties of the three polymerases were unaltered.
D000741:Anemia, Aplastic / Q000201:enzymology*; D001260:Ataxia Telangiectasia / Q000201:enzymology*; D002869:Chromosome Aberrations / Q000201:enzymology*; D025063:Chromosome Disorders; D004256:DNA Polymerase I / Q000378:metabolism*; D004257:DNA Polymerase II / Q000378:metabolism*; D004258:DNA Polymerase III / Q000378:metabolism*; D004260:DNA Repair; D004259:DNA-Directed DNA Polymerase / Q000378:metabolism*; D005199:Fanconi Anemia / Q000201:enzymology*; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D011371:Progeria / Q000201:enzymology*; D014898:Werner Syndrome / Q000201:enzymology*; D014983:Xeroderma Pigmentosum / Q000201:enzymology*
D004256:DNA Polymerase I; D004257:DNA Polymerase II; D004258:DNA Polymerase III; D004259:DNA-Directed DNA Polymerase