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. 1984 Apr;47(4):391–398. doi: 10.1136/jnnp.47.4.391

Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy.

J H Robbins, D A Scudiero, F Otsuka, R E Tarone, R A Brumback, J D Wirtschafter, R J Polinsky, S F Barrett, A N Moshell, R G Scarpinato, et al.
PMCID: PMC1027781  PMID: 6726265

Abstract

Lymphoblastoid lines from nine Usher's syndrome (recessively inherited retinitis pigmentosa and congenital sensorineural deafness) patients (representing eight kindreds) and from ten Duchenne muscular dystrophy patients (representing seven kindreds) showed a small but statistically significant hypersensitivity to the lethal effects of X-rays, as measured by the cellular ability to exclude the vital dye trypan blue, when compared with lines from 26 normal control subjects. Fibroblast lines from the Usher's syndrome patients, treated with X-rays or the radiomimetic, DNA-damaging chemical N-methyl-N'-nitro-N-nitrosoguanidine, also showed a statistically significant hypersensitivity when compared to normal fibroblast lines. These findings are consistent with the possibility that defective DNA repair mechanisms may be involved in the pathogenesis of these degenerative diseases.

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Selected References

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

  1. Abrahams P. J., Van der Eb A. J. Host-cell reactivation of ultraviolet-irradiated SV40 DNA in five complementation groups of xeroderma pigmentosum. Mutat Res. 1976 Apr;35(1):13–22. doi: 10.1016/0027-5107(76)90164-0. [DOI] [PubMed] [Google Scholar]
  2. Andrews A. D., Barrett S. F., Robbins J. H. Relation of D.N.A. repair processes to pathological ageing of the nervous system in xeroderma pigmentosum. Lancet. 1976 Jun 19;1(7973):1318–1320. doi: 10.1016/s0140-6736(76)92652-0. [DOI] [PubMed] [Google Scholar]
  3. Andrews A. D., Barrett S. F., Robbins J. H. Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation. Proc Natl Acad Sci U S A. 1978 Apr;75(4):1984–1988. doi: 10.1073/pnas.75.4.1984. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Andrews A. D., Barrett S. F., Yoder F. W., Robbins J. H. Cockayne's syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis. J Invest Dermatol. 1978 May;70(5):237–239. doi: 10.1111/1523-1747.ep12541383. [DOI] [PubMed] [Google Scholar]
  5. Arlett C. F. Presymptomatic diagnosis of Huntington's disease? Lancet. 1980 Mar 8;1(8167):540–540. doi: 10.1016/s0140-6736(80)92790-7. [DOI] [PubMed] [Google Scholar]
  6. Barrett S. F., Tarone R. E., Moshell A. N., Ganges M. B., Robbins J. H. The post-UV colony-forming ability of normal fibroblast strains and of the xeroderma pigmentosum group G strain. J Invest Dermatol. 1981 Jan;76(1):59–62. doi: 10.1111/1523-1747.ep12524886. [DOI] [PubMed] [Google Scholar]
  7. Barrows L. R., Magee P. N. Nonenzymatic methylation of DNA by S-adenosylmethionine in vitro. Carcinogenesis. 1982;3(3):349–351. doi: 10.1093/carcin/3.3.349. [DOI] [PubMed] [Google Scholar]
  8. Brumback R. A., Yoder F. W., Andrews A. D., Peck G. L., Robbins J. H. Normal pressure hydrocephalus. Recognition and relationship to neurological abnormalities in Cockayne's syndrome. Arch Neurol. 1978 Jun;35(6):337–345. doi: 10.1001/archneur.1978.00500300011002. [DOI] [PubMed] [Google Scholar]
  9. Chamberlain S., Lewis P. D. Studies of cellular hypersensitivity to ionising radiation in Friedreich's ataxia. J Neurol Neurosurg Psychiatry. 1982 Dec;45(12):1136–1138. doi: 10.1136/jnnp.45.12.1136. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Chen P. C., Lavin M. F., Kidson C., Moss D. Identification of ataxia telangiectasia heterozygotes, a cancer prone population. Nature. 1978 Aug 3;274(5670):484–486. doi: 10.1038/274484a0. [DOI] [PubMed] [Google Scholar]
  11. Chen P., Kidson C., Imray F. P. Huntington's disease: implications of associated cellular radiosensitivity. Clin Genet. 1981 Nov;20(5):331–336. doi: 10.1111/j.1399-0004.1981.tb01044.x. [DOI] [PubMed] [Google Scholar]
  12. 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]
  13. Day R. S., 3rd, Ziolkowski C. H., DiMattina M. Decreased host cell reactivation of UV-irradiated adenovirus 5 by fibroblasts from Cockayne's syndrome patients. Photochem Photobiol. 1981 Nov;34(5):603–607. doi: 10.1111/j.1751-1097.1981.tb09049.x. [DOI] [PubMed] [Google Scholar]
  14. Jaspers N. G., Bootsma D. Abnormal levels of UV-induced unscheduled DNA synthesis in ataxia telangiectasia cells after exposure to ionizing radiation. Mutat Res. 1982 Feb 22;92(1-2):439–446. doi: 10.1016/0027-5107(82)90242-1. [DOI] [PubMed] [Google Scholar]
  15. Lytle C. D., Tarone R. E., Barrett S. F., Wirtschafter J. D., Dupuy J. M., Robbins J. H. Host cell reactivation by fibroblasts from patients with pigmentary degeneration of the retina. Photochem Photobiol. 1983 May;37(5):503–508. doi: 10.1111/j.1751-1097.1983.tb04508.x. [DOI] [PubMed] [Google Scholar]
  16. McGovern D., Webb T. Sensitivity to ionising radiation of lymphocytes from Huntington's chorea patients compared to controls. J Med Genet. 1982 Jun;19(3):168–174. doi: 10.1136/jmg.19.3.168. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Moshell A. N., Tarone R. E., Barrett S. F., Robbins J. H. Radiosensitivity in Huntington's disease: implications for pathogenesis and presymptomatic diagnosis. Lancet. 1980 Jan 5;1(8158):9–11. doi: 10.1016/s0140-6736(80)90550-4. [DOI] [PubMed] [Google Scholar]
  18. Moshell A. N., Tarone R. E., Newfield S. A., Andrews A. D., Robbins J. H. A simple and rapid method for evaluating the survival of xeroderma pigmentosum lymphoid lines after irradiation with ultraviolet light. In Vitro. 1981 Apr;17(4):299–307. doi: 10.1007/BF02618141. [DOI] [PubMed] [Google Scholar]
  19. Painter R. B., Young B. R. Radiosensitivity in ataxia-telangiectasia: a new explanation. Proc Natl Acad Sci U S A. 1980 Dec;77(12):7315–7317. doi: 10.1073/pnas.77.12.7315. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Rainbow A. J., Howes M. A deficiency in the repair of UV and gamma-ray damaged DNA in fibroblasts from Cockayne's syndrome. Mutat Res. 1982 Mar;93(1):235–247. doi: 10.1016/0027-5107(82)90138-5. [DOI] [PubMed] [Google Scholar]
  21. 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]
  22. Robbins J. H., Otsuka F., Tarone R. E., Polinsky R. J., Brumback R. A., Moshell A. N., Nee L. E., Ganges M. B., Cayeux S. J. Radiosensitivity in alzheimer disease and Parkinson disease. Lancet. 1983 Feb 26;1(8322):468–469. doi: 10.1016/s0140-6736(83)91461-7. [DOI] [PubMed] [Google Scholar]
  23. Robbins J. H. Significance of repair of human DNA: evidence from studies of xeroderma pigmentosum. J Natl Cancer Inst. 1978 Sep;61(3):645–656. [PubMed] [Google Scholar]
  24. Schmickel R. D., Chu E. H., Trosko J. E., Chang C. C. Cockayne syndrome: a cellular sensitivity to ultraviolet light. Pediatrics. 1977 Aug;60(2):135–139. [PubMed] [Google Scholar]
  25. Scudiero D. A. Decreased DNA repair synthesis and defective colony-forming ability of ataxia telangiectasia fibroblast cell strains treated with N-methyl-N'-nitro-N-nitrosoguanidine. Cancer Res. 1980 Apr;40(4):984–990. [PubMed] [Google Scholar]
  26. Scudiero D. A., Meyer S. A., Clatterbuck B. E., Tarone R. E., Robbins J. H. Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington disease, familial dysautonomia, and other primary neuronal degenerations. Proc Natl Acad Sci U S A. 1981 Oct;78(10):6451–6455. doi: 10.1073/pnas.78.10.6451. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Singer B. N-nitroso alkylating agents: formation and persistence of alkyl derivatives in mammalian nucleic acids as contributing factors in carcinogenesis. J Natl Cancer Inst. 1979 Jun;62(6):1329–1339. [PubMed] [Google Scholar]
  28. Tarone R. E., Scudiero D. A., Robbins J. H. Statistical methods for in vitro cell survival assays. Mutat Res. 1983 Sep;111(1):79–96. doi: 10.1016/0027-5107(83)90010-6. [DOI] [PubMed] [Google Scholar]
  29. 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]
  30. Weerd-Kastelein E. A., Keijzer W., Sabour M., Parrington J. M., Bootsma D. A xeroderma pigmentosum patient having a high residual activity of unscheduled DNA synthesis after UV is assigned to complementation group A. Mutat Res. 1976 Nov;37(2-3):307–312. doi: 10.1016/0027-5107(76)90044-0. [DOI] [PubMed] [Google Scholar]

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