Skip to main content
NCBI home page
Nucleic Acids Research logoLink to Nucleic Acids Research
. 1978 Jun;5(6):2189–2196. doi: 10.1093/nar/5.6.2189

DNA polymerases alpha beta and gamma in inherited diseases affecting DNA repair.

U Bertazzoni, A I Scovassi, M Stefanini, E Giulotto, S Spadari, A M Pedrini
PMCID: PMC342152  PMID: 673849

Abstract

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.

Full text

PDF
2189

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Auerbach A. D., Wolman S. R. Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens. Nature. 1976 Jun 10;261(5560):494–496. doi: 10.1038/261494a0. [DOI] [PubMed] [Google Scholar]
  2. Bertazzoni U., Scovassi A. I., Brun G. M. Chick-embryo DNA polymerase gamma. Identity of gamma-polymerases purified from nuclei and mitochondria. Eur J Biochem. 1977 Dec 1;81(2):237–248. doi: 10.1111/j.1432-1033.1977.tb11945.x. [DOI] [PubMed] [Google Scholar]
  3. Bertazzoni U., Stefanini M., Pedrali-Noy G., Nuzzo F., Falaschi A. Levels of DNA polymerase-alpha and beta in normal and xeroderma pigmentosum fibroblasts. Nucleic Acids Res. 1977 Jan;4(1):141–148. doi: 10.1093/nar/4.1.141. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Bolden A., Noy G. P., Weissbach A. DNA polymerase of mitochondria is a gamma-polymerase. J Biol Chem. 1977 May 25;252(10):3351–3356. [PubMed] [Google Scholar]
  5. Bollum F. J. Mammalian DNA polymerases. Prog Nucleic Acid Res Mol Biol. 1975;15(0):109–144. doi: 10.1016/s0079-6603(08)60118-x. [DOI] [PubMed] [Google Scholar]
  6. Cleaver J. E., Bootsma D. Xeroderma pigmentosum: biochemical and genetic characteristics. Annu Rev Genet. 1975;9:19–38. doi: 10.1146/annurev.ge.09.120175.000315. [DOI] [PubMed] [Google Scholar]
  7. Cleaver J. E. Defective repair replication of DNA in xeroderma pigmentosum. Nature. 1968 May 18;218(5142):652–656. doi: 10.1038/218652a0. [DOI] [PubMed] [Google Scholar]
  8. Epstein J., Williams J. R., Little J. B. Deficient DNA repair in human progeroid cells. Proc Natl Acad Sci U S A. 1973 Apr;70(4):977–981. doi: 10.1073/pnas.70.4.977. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Fujiwara Y., Tatsumi M. Repair of mitomycin C damage to DNA in mammalian cells and its impairment in Fanconi's anemia cells. Biochem Biophys Res Commun. 1975 Sep 16;66(2):592–598. doi: 10.1016/0006-291x(75)90551-3. [DOI] [PubMed] [Google Scholar]
  10. Gianneli F., Benson P. F., Pawsey S. A., Polani P. E. Ultraviolet light sensitivity and delayed DNA-chain maturation in Bloom's syndrome fibroblasts. Nature. 1977 Feb 3;265(5593):466–469. doi: 10.1038/265466a0. [DOI] [PubMed] [Google Scholar]
  11. Hand R., German J. A retarded rate of DNA chain growth in Bloom's syndrome. Proc Natl Acad Sci U S A. 1975 Feb;72(2):758–762. doi: 10.1073/pnas.72.2.758. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Hand R., German J. Bloom's syndrome: DNA replication in cultured fibroblasts and lymphocytes. Hum Genet. 1977 Oct 14;38(3):297–306. doi: 10.1007/BF00402156. [DOI] [PubMed] [Google Scholar]
  13. Higurashi M., Conen P. E. In vitro chromosomal radiosensitivity in "chromosomal breakage syndromes". Cancer. 1973 Aug;32(2):380–383. doi: 10.1002/1097-0142(197308)32:2<380::aid-cncr2820320214>3.0.co;2-2. [DOI] [PubMed] [Google Scholar]
  14. Knopf K. W., Yamada M., Weissbach A. HeLa cell DNA polymerase gamma: further purification and properties of the enzyme. Biochemistry. 1976 Oct 5;15(20):4540–4548. doi: 10.1021/bi00665a032. [DOI] [PubMed] [Google Scholar]
  15. LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
  16. Lambert B., Ringborg U. DNA repair and human disease. Acta Med Scand. 1976;200(6):433–439. doi: 10.1111/j.0954-6820.1976.tb08259.x. [DOI] [PubMed] [Google Scholar]
  17. Lehmann A. R., Kirk-Bell S., Arlett C. F., Paterson M. C., Lohman P. H., de Weerd-Kastelein E. A., Bootsma D. Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation. Proc Natl Acad Sci U S A. 1975 Jan;72(1):219–223. doi: 10.1073/pnas.72.1.219. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Parker V. P., Lieberman M. W. Levels of DNA polymerases alpha, beta, and gamma in control and repair-deficient human diploid fibroblasts 1. Nucleic Acids Res. 1977 Jun;4(6):2029–2037. doi: 10.1093/nar/4.6.2029. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Paterson M. C., Smith B. P., Lohman P. H., Anderson A. K., Fishman L. Defective excision repair of gamma-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts. Nature. 1976 Apr 1;260(5550):444–447. doi: 10.1038/260444a0. [DOI] [PubMed] [Google Scholar]
  20. Pedrini A. M., Dalpra L., Ciarrocchi G., Noy G. C., Spadari S., Nuzzo F., Falaschi A. Levels of some enzymes acting on DNA in xeroderma pigmentosum. Nucleic Acids Res. 1974 Feb;1(2):193–202. doi: 10.1093/nar/1.2.193. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Rainbow A. J., Howes M. Decreased repair of gamma ray damaged DNA in progeria. Biochem Biophys Res Commun. 1977 Jan 24;74(2):714–719. doi: 10.1016/0006-291x(77)90361-8. [DOI] [PubMed] [Google Scholar]
  22. Regan J. D., Setlow R. B. DNA repair in human progeroid cells. Biochem Biophys Res Commun. 1974 Aug 5;59(3):858–864. doi: 10.1016/s0006-291x(74)80058-6. [DOI] [PubMed] [Google Scholar]
  23. Sasaki M. S. Is Fanconi's anaemia defective in a process essential to the repair of DNA cross links? Nature. 1975 Oct 9;257(5526):501–503. doi: 10.1038/257501a0. [DOI] [PubMed] [Google Scholar]
  24. Stefanini M., Dalpra L., Zei G., Giorgi R., Falaschi A., Nuzzo F. Incorporation of (3H)thymidine stimulated by ultraviolet radiation into human fibroblast cultures. Mutat Res. 1976 Feb;34(2):313–326. doi: 10.1016/0027-5107(76)90136-6. [DOI] [PubMed] [Google Scholar]
  25. Taylor A. M., Harnden D. G., Arlett C. F., Harcourt S. A., Lehmann A. R., Stevens S., Bridges B. A. Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature. 1975 Dec 4;258(5534):427–429. doi: 10.1038/258427a0. [DOI] [PubMed] [Google Scholar]

Articles from Nucleic Acids Research are provided here courtesy of Oxford University Press

RESOURCES