Down syndrome: Pathogenesis, radioresistant DNA synthesis and chromosomal instability

Tsitologiya

Volumn 44, Issue 4, 2002, Pages 384-386

  Barenfeld, L S ^a  

^a INSTITUTE OF CYTOLOGY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

BIOSYNTHESIS; CHROMOSOME 21; CHROMOSOME ABERRATION; DNA REPAIR; DOWN SYNDROME; FIBROBLAST; GENETICS; HUMAN; LYMPHOCYTE; METABOLISM; PATHOPHYSIOLOGY; PHENOTYPE; RADIATION EXPOSURE; REVIEW;

CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 21; DNA; DNA REPAIR; DOWN SYNDROME; FIBROBLASTS; HUMANS; LYMPHOCYTES; PHENOTYPE;

EID: 0041378222     PISSN: 00413771     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (84)

1. Antonarakis S. E. 1998. 10 years of Genomics, chromosome 21, and Down syndrome. Genomics. 51:1-16.
2. Atanasiou K., Sideris E. G., Bartsocas C. 1980. Decreased repair of X-ray induced DNA single strand breaks in lymphocytes in Down's syndrome. Pediat. Res. 14:336-338.
3. Barenfeld L. S., Nergadze S. G., Pleskach N. M., Mikhelson V. M. 1995. Slower synthesis of individual replicons and adjacent replicon clusters in a radiosensitive xeroderma pigmentosum strain with and without X-irradiation. Int. J. Radiat. Biol. 68: 169-176.
4. Barenfeld L S., Nergadze S. G., Pleskach N. M., Prokofjeva V. V., Mikhelson V. M. 1998. Decreased number of simultaneously operating adjacent clusters of replicons in some human strains with and without X-irradiation. Mutat. Res. 408:219-226.
5. Barenfeld L. S., Pleskach N. M., Bildin V. N., Prokofjeva V. V., Mikhelson V. M. 1986. Radioresistant DNA synthesis in cells of patients showing increased chromosome sensitivity to ionizing radiation. Mutat. Res. 165:159-164.
6. Boei J.J., Vermeulen S., Natarajan A. T. 2000. Analysis of radiation-induced chromosomal aberration using telomeric and centromeric PNA probes. Int. J. Radiat. Biol. 76:163-167.
7. Chen H., Kassier C., Morris M. A., Scott H. S., Gos A., Bairoch A., Antonarakis S. E. 1999. A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y. Hum. Genet. 105:399-409.
8. Chudina A. P., Malyutina T. S., Pogosyants H. E. 1966. Comparative radiosensitivity of chromosomes in the cultured peripheral blood lymphocytes of normal donors and patients with Down's syndrome. Genetika. 4:51-63.
9. Cohen M. M., Simpson S. J. 1980. Growth kinetics of ataxia telangiectasia lymphoblastoid cells: evedence for a prolonged S period. Cytogenet. Cell Genet. 28:24-33.
10. Countryman P. I., Heddle J. A., Crawford E. 1977. The repair of X-ray-induced chromosomal damage in trisomy 21 and normal, diploid lymphocytes. Cancer Res. 37 52-58.
11. Decaban A. S., Thron K., Steusing J. K. 1966. Chromosomal aberrations in irradiated blood and blood cultures of normal subjects anf of selected patients with chromosomal abnormality. Radiat. Res. 27:50-63.
12. Delabar J.M., Sinet P. M., Chadefaux B., Nicole A., Gegonne A., Stehelin D., Fridlansky F., Creau-Goldberg N., Turleau C., de Grouchy J. 1987. Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome). Hum. Genet. 76:225-229.
13. Edwards M. J., Taylor A. M. R. 1980. Unusual levels of (ADP-ribose) and DNA synthesis in ataxia-telangiectasia cell following γ-ray-irradiation. Nature. 287:745-747.
14. Elrov-Stein O., Bernstein Y., Groner Y. 1986. Overproduction of human Cu/Zn-superoxide dismutase in transfected cells: extenuation of paraquat-mediated cytotoxicity and enhancement of lipid peroxidation. EMBO J. 5:615-622.
15. Elrov-Stein O., Groner Y. 1988. Impaired neurotransmitter uptake in PC 12 cells overexpressing human Cu/Zn superoxide dismutase-implication for gene dosage effects in Down syndrome. Cell. 52:259-267.
16. Foray N., Priestley A., Alsbeih G., Badie C., Copulas E. P., Arlett C. F., Malaise E. P. 1997. Hypersensitivity of ataxia telangiectasia fibroblasts to ionizing radiation is associated with a repair deficiency of DNA double-strand breaks. Int. J. Radiat. Biol. 72:271-283.
17. Friedberg E. C. 1985. DNA damage and human disease. In: DNA repair. New York: Freeman and Co. 505-614.
18. Fuentes J. J., Dierssen M., Pucharcos C., Filiat C., Casas C., Estivill X., Pritchard M. 1999. Application of Alu-splice PCR on chromosome 21: DSCR1 and Intersectin. J. Neural. Transm. Suppl. 57:337-352.
19. Ganges M. B., Tarone R. E., Jiang H., Hauser C., Robbins J. H. 1988. Radiosensitive Down syndrome lymphoblastoid lines have normal ionizing radiation-induced inhibition of DNA synthesis. Mutat. Res. 194:251-256.
20. Cosset P., Ait-Ghezala G., Sinet P. M., Creau N. 1999. Isolation and analysis of chromosome 21 genes potentially involved in Down syndrome. J. Neural. Transm. Suppl. 57: 197-209.
21. Croner Y., Elroy-Stein O., Bernstein Y., Dafni N., Levanon D., Danciger E., Neer A. 1986. Molecular genetics of Down's syndrome: over-expression of transfected human CuZn-superoxide dismutase gene and the consequent physiological changes. Cold Spring Harbor Symp. Quant. Biol. 51:381-393.
22. Hanawalt P. C. 1986. Intragenomic heterogeneity in DNA damage processing: potential implications for risk assessment. In: M. Simic, L. Grossman, A. Upton (Eds). Mechanisms of DNA damage and repair. New York: Plenum Press. 489-498.
23. Hand R. 1978. Eucaryotic DNA: organization of the genome for replication. Cell. 15:317-325.
24. Hasle H., Clemmensen I. H., Mikkelsen M. 2000. Risks of leukaemia and solid tumours in individuals with Down's syndrome. Lancet. 15; 335 (9199):165-169.
25. Heenen M., Goland P. 1980. Decreased rate of DNA-chain growth in human basal cell carcinoma. Nature. 285:256-267.
26. Higurashi M., Conen P. E. 1972. In vitro chromosomal radiosensitivity in patients and in carriers with abnormal non-Down's syndrome karyotypes. Pediat. Res. 6:514-520.
27. Hildmann T., Kong X., O'Brien J., Riesselman L., Christensen H. M., Dagand E., Lehrach H., Yaspo M. L. 1999. A continuous 3-Mb sequence-ready map in the S3-MX region on 21q22.2 based on high-throughout nonisotopic library screenings. Genome Res. 9:360-372.
28. Holmberg M. 1974. No interaction between ultraviolet and X-irradiation on chromosome aberrations in cell with trisomy 21. Nature. 249:448-449.
29. Houldsworth J., Lavin M. F. 1980. Effect of ionizing radiation of DNA synthesis in ataxia-telangiectasia cells. Nucl. Acids Res. 8:3709-3730.
30. Huang C.C., Banerjee A., Tan J. C., Hou Y. 1977. Comparison of radiosensitivity between human hematopoietic cell lines derived from patients with Down's syndrome and from normal persons. J. Nat. Cancer Inst. 59:33-36.
31. Huret J. L., Delabor J. M., Marlheus F., Awrias A., Nicole A., Berthier M., Tauzer J., Sinet P. M. 1987. Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality. Hum. Genet. 75:251-257.
32. Jasny B. R., Tamm I. 1979. Temporal organization of DNA replication in DNA fibers of mammalian cells. J. Cell Biol. 81:692-697.
33. Kaina B., Wallen H., Wallen M., Rieger R. 1977. The action of N-methyl-N-nitrosourea and non-established human cell lines in vitro. I. Cell cycle inhibition and aberration induction in diploid and Down's fibroblasts. Mutat. Res. 44:387-400.
34. Kirkilionis A. J., Sergovich F. R. 1986. Down syndrome with apparently normal chromosomes: an update. J. Pediatrics. 108:739-794.
35. Kucerova M. 1967. Comparison of radiation effects in vitro upon chromosomes of human subjects. Acta radiol. 6:441-448.
36. Lambert B., Hansson K., But T. H., Funes-Cravioto F., Lindstein J., Holmberg M., Strausmanis R. 1976. DNA repair frequency of X-ray and UV light induced chromosome aberrations in leukocytes from patients with Down's syndrome. Ann. Hum. Genet. London. 39:293.
37. Lavin M. F., Bates P., Le Poidevin P., Chen P. C. 1989. Normal inhibition of DNA synthesis following γ-irradiation of radiosensitive cell lines from patients with Down's syndrome and Alzheimer's disease. Mutat. Res. 218:41-47.
38. Lehmann A. R. 1982. Xeroderma pigmentosum, Cockayne syndrome and ataxia-telangiectasia: disorders relating DNA repair and carcinogenesis. In: Cancer surveys. Oxford Univ. Press. 1:93-118.
39. Lejeune J. M., Gautier M., Turpin R. 1959. Etude des chromosomes somatiques de neuf enfants mongoliens. Comp. Rend. Acad. Sci. 248:1721-1722.
40. Leonard J. C., Merz T. 1982. Repair of single-standed breaks in normal and trisomy lymphocytes. Mutat. Res. 105:417-422.
41. Leonard J. C., Merz T. 1983. The influence of cell cycle kinetics on the radiosensitivity of Down's syndrome lymphocytes. Mutat. Res. 109:111-121.
42. Leonard J. C., Merz T. 1987. Chromosomal aberrations in irradiated Down's syndrome fibroblasts. Mutat. Res. 180:223-230.
43. Levanon D., Lieman-Hurwitz J., Dafni N., Widgerson M., Sherman L., Bernstein Y., Laver-Rudich Z., Danciger E., Stein O., Groner Y. 1985. Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase. Embo J. 4:77-84.
44. Metcalfe J. A., Parkhill J., Campbell L., Stacey M., Biggs P., Byrd P. J., Taylor A. M. R. 1996. Accelerated telomere shortering in ataxia-telangiectasia. Nat. Genet. 13:350-353.
45. Mikhelson V. M. 1979. Defective repair of gamma-irradiated DNA in a case of xeroderma pigmentosum. In: A. Graffi, E. Magdon, T. Matthes, S. Tanneberger (Eds). DNA repair and cancer research. Berlin: Akademie-Verlag. 157-171.
46. Morimoto K., Kaneko T., Lijima L., Koizumi A. 1984. Proliferation kinetics and chromosome damage in trisomy 21 lymphocyte cultures exposed to X-ray and bleomycin. Cancer Res. 44:1499-1504.
47. Muller S., Stanyon R., Finelli P., Archidiacono N., Wienberg J. 2000. Molecular cytogenetic dissection of human chromosome 3 and 21 evolution. Proc. Nat. Acad. Sci. USA. 97:206-216.
48. Okada S. 1970. Radiation biochemistry. New York: Acad. Press. 1:210p.
49. Otsuka F., Tarone R. E., Seguin L. R., Robbins J. H. 1985. Hypersensitivity to ionizing radiation in cultured cells from Down syndrome patients. J. Neurol. Sci. 69:103-112.
50. Painter R. B. 1986. Inhibition of mammalian DNA synthesis by ionizing radiation. Int. J. Radiat. Ionizing Radiat. Mutat. Res. 165:150-164.
51. Painter R. B., Young B. R. 1980. Radiosensitivity in ataxia telangiectasia: a new explanation. Proc. Nat. Acad. Sci. USA. 77:7315-7317.
52. Patterson D., Graw S., Jones C. 1981. Demonstration, by somatic cell genetics, of coordinate regulation of genes for two enzymes of purine synthesis assigned to human chromosome 21. Proc. Nat. Acad. Sci. USA. 78:405-409.
53. Poissonnier M., Saint-Paul B., Dutrillaux B., Chassaigue M., Gruyer P., de Blingnieres-Strouk G. 1976. Trisomie 21 partielle (21q21- > 21q22,2). Ann. Genet. (Paris). 19:69-73.
54. Preston R. J. 1981. X-ray-induced chromosome aberrations in Down syndrome lymphocytes: an explanation of their increased sensitivity. Environ. Mutagen. 3:85-89.
55. Pritchard M A., Kola I. 1999. The «gene dosage effect» hypothesis versus the «amplified developmental instability» hypothesis in Down syndrome. J. Neural. Transm. Suppl. 57:293-303.
56. Saenko A. S., Synzynys B. I., Brozmanova J., Pelevina I. I. 1990. Inducible processes in DNA replication and repair after gamma, UV-irradiation and action of some chemicals in mammalian cells. Acta biol. hung. 41:223-230.
57. Sasaki M. S. 1978. Radiation damage and its repair in the formation of chromosome aberrations in human lymphocytes. In: H. J. Evans. D. C. Lloyd (Eds). Mutagen-induced chromosome damage in man. New Haven: Yale Univ. Press. 62-76.
58. Schwaiger H., Weirich H. G., Hirsch-Kauffmann M., Groner Y., Schweiger M. 1989. Radiation sensitivity of Down's syndrome fibroblasts might be due to overexpressed Cu/Zn-superoxide dismutase (EC 1.15.1.1). Eur. J. Cell Biol. 48:79-87.
59. Shafik H. M., Au W. W., Legatar M. S. 1988. Chromosomal radiosensitivity of Down syndrome lymphocytes at different stages of the cell cycle. Hum. Genet. 78:71-78.
60. Sherrington P. D., Fisch P., Taylor A. M. R., Rabins T. H. 1994. Clonal evolution of malignant and non-malignant T cell carring t (14; 14) and t (x; 14) in patients with ataxia telangiectasia. Oncogene. 9:2377-2381.
61. Spector B. D., Filipovich A. H., Perry G. S., Kersey J. H. 1982. Epidemiology of cancer in ataxia telangiectasia. In: Ataxia telangiectasia - a cellular and molecular link betwiin cancer, neuropathology and immunodeficiency. Chichester: John Wiley. 103-138.
62. Summitt R. L. 1981. Chromosome 21: specific segments that cause the phenotype of Down syndrome: In: F. F. de la Cruz, P. S. Gerald (Eds). Trisomy 21 (Down syndrome). Research and perspective. Baltimore, MD: Univ. Park Press. 225-235.
63. Takeuchi F., Hanaoka F., Goto M., Akaoka I., Hori T., Yamada M., Miyamoto T. 1982. Altered frequency of initiation sites of DNA replication in Werner's syndrome cells. Hum. Genet. 60:365-368.
64. Tarone R. E. Liao K., Rabbins J. H. 1982. Effects of DNA-damaging agents on Down syndrome cells: implication for defective DNA-repair mechanisms. In: C. Epstein, L. Epstein (Eds). Oncology and immunology of Down syndrome. New York: Liss. 93-113.
65. Tassone F., Lucas R., Slavov D., Kavsan V., Crnic L., Gardiner K. 1999. Gene expression relevant to Down syndrome: problems and approaches. J. Neural. Transm. Suppl. 57:179-195.
66. Taylor A. M. R. 1992. Ataxia telangiectasia genes and predisposition to leukemia, lymphoma and breast cancer. Brit. J. Cancer. 66:5-9.
67. Watanabe I. 1974. Radiation effects on DNA chain growth in mammalian cells. Radiat. Res. 58:541-556.
68. Wiltshire T., Pletcher M., Cole S. E., Villanueva M., Birren B., Lehoczky J., Dewar K., Reevas R. H. 1999. Perfect conserved linkage across the entire mouse chromosome 10 region homologous to human chromosome 21. Genome Res. 9:1214-1222.
69. Wit J., de Jaspers N. G. J. D., Bootsma D. 1981. The rate of DNA synthesis in normal human and ataxia telangiectasia cells after exposure of X-irradiation. Mutat. Res. 80:221-226.
70. Xia S. J., Shammas M. A., Shmooker-Reis R. J. 1996. Reduced telomer length in ataxia-telangiectasia fibroblasts. Mutat. Res. 364:1-11.
71. Young B. R., Painter R. B. 1989. Radioresistant DNA synthesis and human genetic disease. Hum. Genet. 82:113-117.
72. Zeeland A. A., van. Vrieling H. 1999. Mutation in mammalian cells in vitro and in vivo as indicators of exposure to carcinogens. IARC Sci. Publ. 146:355-365.