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Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1975 Jan;72(1):59–63. doi: 10.1073/pnas.72.1.59

National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20014, USA.

Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates.

K H Kraemer, H G Coon, R A Petinga, S F Barrett, A E Rahe, J H Robbins
PMCID: PMC432240  PMID: 164028

Abstract

Fibroblast strains from 12 patients with xeroderma pigmentosum had lower than normal rates of DNA repair, as determined by autoradiographic studies of ultraviolet-induced unscheduled nuclear DNA synthesis. The nuclei in binuclear cells, obtained by fusing fibroblasts from certain pairs of these strains, had a greater rate of DNA repair than the nuclei of either strain's unfused mononuclear cells. These results indicate that complementary corrections of the strains' repair defects had occurred in the fused cells. Four complementation groups were found, indicating that at least four mutations caused decreased DNA repair among these 12 strains. The unfused mononuclear cells of each group had a characteristic rate of repair that differed from the rates of the other groups.

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Selected References

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  1. Burk P. G., Lutzner M. A., Clarke D. D., Robbins J. H. Ultraviolet-stimulated thymidine incorporation in xeroderma pigmentosum lymphocytes. J Lab Clin Med. 1971 May;77(5):759–767. [PubMed] [Google Scholar]
  2. Cleaver J. E. DNA repair and radiation sensitivity in human (xeroderma pigmentosum) cells. Int J Radiat Biol Relat Stud Phys Chem Med. 1970;18(6):557–565. doi: 10.1080/09553007014551491. [DOI] [PubMed] [Google Scholar]
  3. 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]
  4. Cleaver J. E. Repair replication of mammalian cell DNA: effects of compounds that inhibit DNA synthesis or dark repair. Radiat Res. 1969 Feb;37(2):334–348. [PubMed] [Google Scholar]
  5. Coon H. G., Weiss M. C. A quantitative comparison of formation of spontaneous and virus-produced viable hybrids. Proc Natl Acad Sci U S A. 1969 Mar;62(3):852–859. doi: 10.1073/pnas.62.3.852. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Day R. S., 3rd Studies on repair of adenovirus 2 by human fibroblasts using normal, xeroderma pigmentosum, and xeroderma pigmentosum heterozygous strains. Cancer Res. 1974 Aug;34(8):1965–1970. [PubMed] [Google Scholar]
  7. De Weerd-Kastelein E. A., Keijzer W., Bootsma D. Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization. Nat New Biol. 1972 Jul 19;238(81):80–83. doi: 10.1038/newbio238080a0. [DOI] [PubMed] [Google Scholar]
  8. Epstein J. H., Fukuyama K., Reed W. B., Epstein W. L. Defect in DNA synthesis in skin of patients with xeroderma pigmentosum demonstrated in vivo. Science. 1970 Jun 19;168(3938):1477–1478. doi: 10.1126/science.168.3938.1477. [DOI] [PubMed] [Google Scholar]
  9. Kleijer W. J., de Weerd-Kastelein E. A., Sluyter M. L., Keijzer W., de Wit J., Bootsma D. UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes. Mutat Res. 1973 Dec;20(3):417–428. doi: 10.1016/0027-5107(73)90062-6. [DOI] [PubMed] [Google Scholar]
  10. Lyons L. B., Cox R. P., Dancis J. Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts. Nature. 1973 Jun 29;243(5409):533–535. doi: 10.1038/243533a0. [DOI] [PubMed] [Google Scholar]
  11. Nadler H. L., Chacko C. M., Rachmeler M. Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity. Proc Natl Acad Sci U S A. 1970 Oct;67(2):976–982. doi: 10.1073/pnas.67.2.976. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Painter R. B., Cleaver J. E. Repair replication, unscheduled DNA synthesis, and the repair of mammalian DNA. Radiat Res. 1969 Mar;37(3):451–466. [PubMed] [Google Scholar]
  13. Parrington J. M., Delhanty J. D., Baden H. P. Unscheduled DNA synthesis, u.v.-induced chromosome aberrations and SV 40 transformation in cultured cells from xeroderma pigmentosum. Ann Hum Genet. 1971 Oct;35(2):149–160. doi: 10.1111/j.1469-1809.1956.tb01387.x. [DOI] [PubMed] [Google Scholar]
  14. Paterson M. C., Lohman P. H., Westerveld A., Sluyter M. L. DNA repair monitored by an enzymatic assay in multinucleate xeroderma pigmentosum cells after fusion. Nature. 1974 Mar 1;248(5443):50–52. doi: 10.1038/248050a0. [DOI] [PubMed] [Google Scholar]
  15. Rasmussen R. E., Painter R. B. Radiation-stimulated DNA synthesis in cultured mammalian cells. J Cell Biol. 1966 Apr;29(1):11–19. doi: 10.1083/jcb.29.1.11. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Robbins J. H., Kraemer K. H., Lutzner M. A., Festoff B. W., Coon H. G. Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med. 1974 Feb;80(2):221–248. doi: 10.7326/0003-4819-80-2-221. [DOI] [PubMed] [Google Scholar]
  17. Robbins J. H., Kraemer K. H. Prolonged ultraviolet-induced thymidine incorporation into xeroderma pigmentosum lymphocytes: studies on its duration, amount, localization and relationship to hydroxyurea. Biochim Biophys Acta. 1972 Aug 16;277(1):7–14. doi: 10.1016/0005-2787(72)90345-0. [DOI] [PubMed] [Google Scholar]
  18. Sekiguchi T., Sekiguchi F. Interallelic complementation in hybrid cells derived from Chinese hamster diploid clones deficient in hypoxanthine-guanine phosphoribosyl-transferase activity. Exp Cell Res. 1973 Mar 15;77(1):391–403. doi: 10.1016/0014-4827(73)90593-4. [DOI] [PubMed] [Google Scholar]
  19. de Weerd-Kastelein E. A., Keijzer W., Bootsma D. A third complementation group in xeroderma pigmentosum. Mutat Res. 1974 Jan;22(1):87–91. doi: 10.1016/0027-5107(74)90013-x. [DOI] [PubMed] [Google Scholar]
  20. de Weerd-Kastelein E. A., Kleijer W. J., Sluyter M. L., Keijzer W. Repair replication in heterokaryons deprived from different repair-deficient xeroderma pigmentosum strains. Mutat Res. 1973 Aug;19(2):237–243. doi: 10.1016/0027-5107(73)90082-1. [DOI] [PubMed] [Google Scholar]

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