Genetically determined chromosome instability syndromes

Cytogenetics and Cell Genetics

Volumn 33, Issue 1-2, 1982, Pages 119-132

  Schroeder, T M ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA TELANGIECTASIA; BLOOM SYNDROME; CHROMOSOME BREAKAGE; DNA REPAIR; DNA SYNTHESIS; ETIOLOGY; FANCONI ANEMIA; HEREDITY; HISTOLOGY; HUMAN CELL; IN VITRO STUDY; METHODOLOGY; WERNER SYNDROME;

ANEMIA, APLASTIC; ATAXIA TELANGIECTASIA; BLOOM SYNDROME; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; COMPARATIVE STUDY; DNA REPAIR; FANCONI ANEMIA; HUMAN; NEOPLASMS;

EID: 0019963318     PISSN: 03010171     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000131736     Document Type: Article

References (111)

1. Abels, D. and Reed, W.B.: Fanconi-like syndrome. Arch. Derm. 107: 419-423 (1973).
2. Alhadeff, B.; Velivasakis, M.; Pagan-Charry, I.; Wright, W.C., and Siniscalco, M.: High rate of sister chromatid exchanges of Bloom's syndrome chromosomes is corrected in rodent human somatic cell hybrids. Cytogenet. Cell Genet. 27: 8-23 (1980).
3. Arlett, C.F. and Lehmann, A.R.: Human disorders showing increased sensitivity to the induction of genetic damage. Annu. Rev. Genet. 12: 95-115 (1978).
4. Al Saadi. A.; Palutke. M. and Krishna Kumar. G.: Evolution of chromosomal abnormalities in sequential cytogenetic studies of ataxia telangiectasia. Hum. Genet. 55: 23-29 (1980).
5. Auerbach, A.D.; Adler, B., and Chaganti, R.S.K.: Pre-and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics 67: 128-135 (1981).
6. Auerbach, A.D.; Lieblich, L.M.; Ehrenhard. L.; Auerbach, R., and Chagann, R.S.K.: Dyskeratosis congenita: Cytogenetic studies in a family with an unusual pattern of inheritance. Am. J. hum. Genet. 31: 87A (1979).
7. Auerbach, A.D.; Warburton, D.; Bloom, A.D., and Chaganti, R.S.K.: Prenatal detection of the Fanconi anemia gene by cytogenetic methods. Am. J. hum. Genet. 31: 77-81 (1979).
8. Auerbach, A.D. and Wolman, S.R.: Susceptibility of Fanconi's anemia fibroblasts to chromosome damage by carcinogens. Nature, Lond. 261: 494-496 (1976).
9. Auerbach, A.D. and Wolman, S.R.: Carcinogen-induced chromosome breakage in Fanconi's anemia heterozygous cells. Nature, Lond. 271: 69-71 (1978).
10. Auerbach, A.D. and Wolman, S.R.: Carcinogen-induced chromosome breakage in chromosome instability syndromes. Cancer Genet. Cytogenet. 1: 21-28 (1979).
11. Auerbach, A.D.; Wolman, S.R., and Chaganti, R.S.K.: A spontaneous clone of Fanconi anemia fibroblasts with chromosome abnormalities and increased growth potential. Cytogenet. Cell Genet. 28: 265-270 (1980).
12. Bartram, C.R.; Rüdiger, H.W., and Passarge. E.: Frequency of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by cocultivation with normal cells. Hum. Genet. 46: 331-334 (1979).
13. Berger, R.; Bernheim. A.; Le Coniat, M.; Vecchione, D., and Schaison, G.: Chromosomal studies of leukemic and preleukemic Fanconi's anemia patients. Hum. Genet. 56: 59-62 (1980).
14. Bryant, E.M.; Hoehn, H., and Martin, G.M.: Normalisation of sister chromatid exchange frequencies in Bloom's syndrome by euploid cell hybridisation. Nature, Lond. 279: 795-796 (1979).
15. van Buul, P.P.W.; Natarajan, A.T., and Verde-gaal-Immerzeel, E.A.M.: Suppression of the frequencies of sister chromatid exchanges in Bloom's syndrome fibroblasts by co-cultivation with Chinese hamster cells. Hum. Genet. 44: 187-189 (1978).
16. Caldwell, R.; Chase, C., and Swift, M.: Cancer in Fanconi's anemia families. Am. J. hum. Genet. 31: 132A (1979).
17. Chaganti, R.S.K.; Schonberg, S., and German, J.: A manifold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes. Proc. natn. Acad. Sci. USA 71: 4508-4515 (1974).
18. Chen, P.C.; Lavin, M.F., and Kidson, C.: Identification of ataxia telangiectasia heterozygotes, a cancer prone population. Nature, Lond. 274: 484-486 (1978).
19. Cleaver, J.E.: Defective repair replication of DNA in xeroderma pigmentosum. Nature, Lond. 218: 652-656 (1968).
20. Cohen, M.M.; Sagi, M.; Ben-Zur, Z.; Schaap, T.; Voss, R.; Kohn, G., and Ben-Bassai, H.: Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines. Cytogenet. Cell Genet. 23: 44-52 (1979).
21. Cohen, M.M.; Shaham, M.; Dagan, J.; Shnuell, E., and Kohn, G.: Cytogenetic investigations in families with ataxia-telangiectasia. Cytogenet. Cell Genet. 15: 338-356 (1975).
22. Cohen, M.M. and Simpson, S.J.: Growth kinetics of ataxia telangiectasia lymphoblastoid cells. Cytogenet. Cell Genet. 28: 24-33 (1980).
23. Dosik, H.; Steier, W., and Lubiniecki, A.: Inherited aplastic anaemia with increased endo-reduplications: a new syndrome or Fanconi's anaemia variant? Br. J. Haemat. 41: 77-82 (1979).
24. Dutrillaux, B.; Couturier, J.; Viegas-Peguinot, E. and Schaison. G.: Localization of chromatid breaks in Fanconi's anemia using three consecutive stains. Hum. Genet. 37: 65-71 (1977).
25. Elmore, E. and Swift, M.: Growth of cultured cells from patients with Fanconi anemia. J. cell. Physiol. 87: 229-234 (1975).
26. Emerit, I.: Chromosomal breakage in systemic sclerosis and related disorders. Dermatologica 153: 145-156 (1977).
27. Emerit, I. and Cerutti, P.: Clastogenic activity from Bloom syndrome fibroblast cultures. Proc. natn. Acad. Sci. USA 78: 1868-1872 (1981).
28. Estren, S. and Damashak, W.: Familial hypoplastic anemia of childhood. Am. J. Dis. Child. 73: 671-687 (1947).
29. FancOni. G.: Familial constitutional panmyelocyto-pathy, Fanconi's anemia (F.A.). Semin. He-matol. 4: 233-240 (1967).
30. Fujiwara, Y.; Tatsumi, M., and Sasaki. M.S.: Cross-link repair in human cells and its possible defect in Fanconi's anemia cells. J. mol. Biol. 113: 635-649 (1977).
31. Galloway, S.M. and Evans, H.D.: Sister chromatid exchange in human chromosomes from normal individuals and patients with ataxia telangiectasia. Cytogenet. Cell Genet. 15: 17-29 (1975).
32. German, J.: Cytological evidence for crossing-over in vitro in human lymphoid cells. Science 144: 298-301 (1964).
33. German, J.: Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Am. J. hum. Genet. 21: 196-227 (1969).
34. German, J.: Oncogenic implications of chromosomal instability. Hospital Practice 93-104 (1973).
35. German, J.: Cancer in chromosome-breakage syndromes. In Proc. 6th Intern. Congr. Radiat. Res. pp. 496-505. Jap. Ass. Radiat. Res. (1979).
36. German, J.: Chromosome-breakage syndromes: different genes, different treatments, different cancers. In W.M. Generoso, M.D. Shelby, F. J. de Serres, eds.: DNA Repair and Mutagenesis in Eukaryotes. Basic Life Science 15: 429-439 (Plenum Press, New York and London 1980).
37. German, J.; Bloom, D., and Archibald, R.: Chromosome breakage in a rare and probably genetically determined syndrome of man. Science 148: 506-507 (1965).
38. German, J.; Bloom, D., and Passarge, E.: Bloom's syndrome. VII. Progress report for 1978. Clin. Genet. 15: 361-367 (1979).
39. German. J.; Bloom, S.; Passarge, E.; Fried, K.: Goodman, R.M.; Katzenellenbogen, I.; Laron. Z.; Legum, C.; Levin, S., and Wahrman, J.: Bloom's Syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim. Am. J. hum. Genet. 29: 553-562 (1977).
40. German, J.: Schonberg, S.: Louie, E., and Cha-Ganti R.S.K.: Bloom's syndrome. IV. Sister-chromatid exchanges in lymphocytes. Am. J. hum. Genet. 29: 248-255 (1977).
41. Gmyrek, D. and Syllm-Rapoport, I.: Zur Fan-coni Anämie, Analyse von 129 verschiedenen Fallen. Kinderheilkunde 91: 297-337 (1964).
42. Gonzalez, C.H.; Durkin-Stamm, M.V.; Geiner, N.K.; Shahidi, N.T.; Schilling, R.F.; Rubira, F., and Opitz, J.M.: The WT syndrome-a "new'' autosomal pleiotropic trait of radial-ulnar hypoplasia with high risk of bone marrow failure and/or leukemia. Birth Defects Org. Art. Ser. XIII 3B: 31-38 (1977).
43. de Grouchy, J.; Bonnelle. J.: Brussieuz, J.; Roidot, M., and Begin, P.: Cassures chromo-somiques dans l'incontinentia pigmenti. Annls Génét. 15: 61 (1972).
44. Hand, R. and German, J.: A retarded rate of DNA chain growth in Bloom's syndrome. Proc. natn. Acad. Sci. USA 72: 758-762 (1975).
45. Harnden, D.G.: Inherited chromosome instability in man. Chromosomes Today 7: 214-219 (1981).
46. Hecht, F. and Kaiser McCaw, B.: Chromosome instability syndromes. In J.J. Mulvihill, R.W. Miller, and J.F. Fraumeni, Jr. eds.: Genetics of Human Cancer, Vol. 4, pp. 105-123 (Raven Press. New York 1977).
47. Hecht. F.; Koler, R.D.; Rigas, D.A.; Dake, G. S.; Case, M.P.: Tirdale, V., and Müller, R.W.: Leukemia and lymphocytes in ataxia-telangiectasia. Lancet ii: 1193 (1966).
48. Heddle, J.A.; Lue, C.B.; Saunders, E.F., and Benz, R.D.: Sensitivity to five mutagens in Fanconi's anemia as measured by the micronucleus method. Cancer Res. 38: 2983-2988 (1978).
49. Higurashi, M. and Conen, P.E.: In vitro chromosomal radiosensitivity in ''chromosomal breakage syndromes". Cancer 32: 380-383 (1973).
50. Hirsch-Kauffmann, M.: Schweicer, M.; Wagner, E.F., and Sperling, K.: Deficiency of DNA ligase activity in Fanconi's anemia. Hum. Genel. 45: 25-32 (1978).
51. Huang. P.C. and Sheridan, R.B.: Genetic and biochemical studies with ataxia telangiectasia. Hum. Genet. (1981, in press).
52. Iskandar, O.; Jager, M.J.; Willenze, R., and Natarajan, A.T.: A case of pure red cell aplasia with a high incidence of spontaneous chromosome breakage: a possible X-ray sensitivity syndrome. Hum. Genet. 55: 337-340 (1980).
53. Joenje, H.; Arwert, F.; Eriksson, A.W.; de Koning, H., and Oostra. A.B.: Öxygen-depen-dence of chromosomal aberrations in Fanconi's anaemia. Nature, Lond. 290: 142-143 (1981).
54. Kuhn, E.M.: Mitotic chiasmata and other quadri-radials in mitomycin C-treated Bloom's syndrome lymphocytes. Chromosoma 66: 287-297 (1978).
55. t and Go on Bloom's syndrome and normal chromosomes. Hum. Genet. 54: 335-341 (1980).
56. Kuhn, E.M. and Therman, E.: Chromosome breakage and rejoining of sister chromatids in Bloom's syndrome. Chromosoma 73: 275-286 (1979).
57. Kuhn, E.M. and Therman, E.: No increased chromosome breakage in three Bloom's syndrome heterozygotes. J. med. Genet. 16: 219-222 (1979).
58. Latt, S.A. Stetten, G.; Juergens, L.A.; Buchanan, G.R., and Geralds, P.S.: Induction by alkylating agents of sister chromatid exchanges and chromatid breaks in Fanconi's anemia. Proc. natn. Acad. Sci. USA 72: 4066-4070 (1975).
59. Lindgren, V.: The location of chromosome breaks in Bloom's syndrome. Cytogenet. Cell Genet. 29: 99-106 (1981).
60. McKusick, V.A.: Mendelian Inheritance in Man, 5th ed. (The Johns Hopkins University Press, (Baltimore 1978).
61. Meme, J.S.; Gripenberg, U., and Kahkönen, M.: Fanconi's anemia; chromosome breakage in a large African family. Hereditas 93: 255-260 (1980).
62. Mulcahy, M.T. and French, M.: Pregnancy in Bloom's syndrome. Clin. Genet. 19: 156-158 (1981).
63. Nordenson, J.: Effect of superoxide dismutase and catalase on spontaneously occurring chromosome breaks in patients with Fanconi's anemia. Hereditas 86: 147-150 (1977).
64. Nordenson, J.; Björksten, B., and Lundh, B.: Prevention of chromosomal breakage in Fan-coni's anemia by cocultivation with normal cells. Hum. Genet. 56: 169-171 (1980).
65. Oxford, J.M.; Harnden, D.G.; Parrington, J.M., and Delhanty, J.D.A.: Specific chromosome aberrations in ataxia telangiectasia. J. med. Genet. 12: 251-262 (1975).
66. Paterson. M.C. and Smith, P.J.: Ataxia telangiectasia: An inherited human disorder involving hypersensitivity to ionizing and related DNA-damaging chemicals. Annu. Rev. Genet. 13: 291-318 (1979).
67. Poon, P.K.; O'Brien. R.L., and Parker, J.W.: Defective DNA repair in Fanconi's anaemia. Nature, Lond. 250: 223-225 (1974).
68. Remsen, J.F. and Cerutti, P.A.: Deficiency of gamma-ray excision repair in skin fibroblasts from patients with Fanconi's anemia. Proc. natn. Acad. Sci. USA 73: 2419-2423 (1976).
69. Rudiger, H.W.; Bartram, C.R.; Harder, W., and Passarge, E.: Rate of sister chromatid exchanges in Bloom's syndrome fibroblasts reduced by co-cultivation with normal fibroblasts. Am. J. hum. Genet. 32: 150-157 (1980).
70. Salk, D. Au, K.; Hoehn, H., and Martin, G.M.: Effects of radical-scavenging enzymes and reduced oxygen exposure on growth and chromosome abnormalities of Werner syndrome cultured skin fibroblasts. Hum. Genet. 57: 269-275 (1981).
71. Sasaki, M.S.: Is Fanconi's anaemia defective in a process essential to the repair of DNA cross links? Nature, Lond. 257: 501-503 (1975).
72. Sasaki, M.S.: Sister chromatid exchange and chromatid interchange as possible manifestation of different DNA repair processes. Nature, Lond. 269: 623-625 (1977).
73. Sasaki, M.S.: Fanconi's anemia. A condition possibly associated with a defective DNA repair. In P.C. Hanawalt, E.C. Friedberg, and C.F. Fox, eds.: DNA Repair Mechanisms, pp. 675-684 (Academic Press, New York 1978).
74. Sasaki, M.S. and Tonomura, A.: A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-linking agents. Cancer Res. 33: 1829-1836 (1973).
75. Schonberg, S. and German, J.: Sister chromatid exchange in cells metabolically coupled to Bloom's syndrome cells. Nature, Lond. 284: 72-84 (1980).
76. Schroeder, T.M.: Cytogenctische und cytologische Befunde bei enzymopenischen Panmyelopathien und Pancytopenien. Humangenetik 2: 287-316 (1966).
77. Schroeder, T.M.: Genetische Faktoren den Krebs-entstehung. Fortschr. Med. 16: 603-608 (1972).
78. Schroeder, T.M.: Sister chromatid exchanges and chromatid interchanges in Bloom's syndrome. Humangenetik 30: 317-323 (1975).
79. Schroeder. T.M.: Anschütz. F., and Knopp, A.: Spontane Chromosomenaberrationen bei fami-liärer Panmyelopathie. Humangenetik 1: 194-196 (1964).
80. Schroeder, T.M.; Drings, P.; Beilner, P., and BuciiiNGER, G.: Clinical and cytogenetic observations during a six-year period in an adult with Fanconi's anaemia. Blut 34: 119-132 (1976).
81. Schroeder, T.M. and German, J.: Bloom's syndrome and Fanconi's anemia: demonstration of two distinct patterns of chromosome disruption and rearrangement. Humangenetik 25: 299-306 (1974).
82. Schroeder, T.M. and Hofbauer, M.: Dyskeratosis congenita. Dermatology 151: 316-318 (1975).
83. Schroeder, T.M. and Kurth, R.: Spontaneous chromosomal breakage and high incidence of leukemia in inherited disease. Blood 37: 96-112 (1971).
84. Schroeder, T.M.; Pöhler, E.; Hufnagl, H.D., and Stahl-Mauge, C.: Fanconi's anemia: terminal leukemia and "forme fruste" in one family. Clin. Genet. 16: 260-268 (1979).
85. Schroeder, T.M. and Stahl-Mauge, C.: Spontaneous chromosome instability, chromosome reparation and recombination in Fanconi's anemia and Bloom's syndrome. In H. Altmann. ed.: DNA-Rcpair and Late Effects, pp. 35-50 (Edition Roetzer, Eisenstadt 1976).
86. Schroeder, T.M. and Stahl-Mauge, C.: Mutagenic effects of isonicotinic acid hydracide in Fanconi's anemia. Hum. Genet. 52: 309-321 (1979).
87. Schroeder, T.M.; Tilgen, D.; Kruger, J., and Vogel, F.: Formal genetics of Fanconi's anemia. Hum. Genet. 32: 257-288 (1976).
88. Shaham, M. and Becker, Y.: The ataxia telangiectasia clastogenic factor is a low molecular weight peptide. Hum. Genet. (1981, in press).
89. Shaham, M.; Becker, Y. and Cohen, M.M.: A diffusable clastogenic factor in ataxia telangiectasia. Cytogenet. Cell Genet. 27: 155-161 (1980).
90. Shiraishi, Y.; Freeman, A.L. and Sandberg, A.A.: Increased sister chromatid exchange in bone marrow and blood cells from Bloom's syndrome. Cytogenet. Cell Genet. 17: 162-173 (1976).
91. Shiraishi. Y. and Sandberg, A.A.: The relationship between sister chromatid exchanges and chromosome aberrations in Bloom's syndrome. Cytogenet. Cell Genet. 18: 13-23 (1977).
92. Sirinavin, C. and Trowbridge, A.A.: Dyskeratosis congenita: clinical features and genetic aspects. 1. med. Genet. 12: 339-354 (1975).
93. Sperling, K.; Wegner, R.D.; Riehm. H., and Obe, G.: Frequency and distribution of sister-chromatid exchanges in a case of Fanconi's anemia. Humangenetik 27: 227-230 (1975).
94. Sutherland, G.R. and Hinton, L.: Heritable fragile sites on human chromosomes. Hum. Genet. 57: 217-219 (1981).
95. Swift, M.: Fanconi's anaemia in the genetics of neoplasia. Nature, Lond. 230: 370-373 (1971).
96. Swift. M.; Caldwell, R.L, and Chase, C.: Reassessment of cancer predisposition of Fanconi anemia heterozygotes. J. natn. Cancer Inst. (1981, in press).
97. Swift, M.; Shoeman, L., and Perry, M.: Malignant neoplasms in the families of patients with ataxia telangiectasia. Cancer Res. 36: 209-215 (1976).
98. Taylor. A.M.R.; Harnden, D.G.; Arlett. C.F.; Harcourt, S.A.; Lehmann, A.R.: Stevens, S. and Bridges, B.A.: Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature, Lond. 258: 427-429 (1975).
99. Taylor, A.M.R.; Metcalfe, J.A.; Oxford, J.M., and Harnden, D.G.: Is chromatid-type damage in ataxia telangiectasia after irradiation at G., a consequence of defective repair? Nature, Lond. 260: 441-443 (1976).
100. Therman, E. and Kuhn, E.M.: Cytological demonstration of mitotic crossing-over in man. Cytogenet. Cell Genet. 17: 254-267 (1976).
101. Tice, R.; Windler, G., and Rary, J.M.: Effect of cocultivation on sister chromatid exchange frequencies in Bloom's syndrome and normal fibroblast cells. Nature, Lond. 273: 538-540 (1978).
102. Todaro, G.L; Green, H., and Swift, M.R.: Susceptibility of human diploid fibroblasts to transformation by SV-40 virus. Science 153: 1252-1254 (1966).
103. Vormittag, W.; Kunze-Mühl, E., und Weninger, M.: Chromosomale Instabilität bei Homo-und Heterozygotie fiir Mikrocephalia vera. Humangenetik 26: 307-314 (1975).
104. Warren, S.T.; Schultz, R.A.; Chang, C.-C; Wade, M.H., and Trosko, J.E.: Elevated spontaneous mutation rate in Bloom syndrome fibroblasts. Proc. natn. Acad. Sci. USA 78: 3133-3137 (1981).
105. Webb, T.: Harnden, D.G., and Harding, M.: The chromosome analysis and susceptibility to transformation by simian virus 40 of fibroblasts from ataxia telangiectasia. Cancer Res. 37: 997-1002 (1977).
106. Weksberg, R.; Buchwalt, M.; Sargent, P.; Thompson, M.W., and Siminovitch, L.: Specific cellular defects in patients with Fanconi anemia. J. cell Physiol. 101: 311-324 (1979).
107. Wunder, E.: Spontaneous formation of interstrand crosslinks in cellular DNA by free oxygen radicals. International Symposion on Chromatin and DNA-Repair. Saalfelden A., in press (1981). H. Altmann edt.
108. Wunder, E.; Burghardt, U.; Lang, B., and Hamilton, L.: Fanconi's anemia: anomaly of enzyme passage through the nuclear membrane? Hum. Genet. 58: 149-155 (1981).
109. Yoshida, M.C.: Suppression of spontaneous and mitomycin C-induced chromosome aberrations in Fanconi's anemia by cell fusion with normal human fibroblasts. Hum. Genet. 55: 223-226 (1980).
110. Zakrzewski, S. and Sperling, K.: Genetic heterogeneity of Fanconi's anemia demonstrated by somatic cell hybrids. Hum. Genet. 56: 81-84 (1980).
111. Zakrzewski, S. and Sperling, K.: Anatagonistic effect of co-cultivation on mitomycin C-induced aberration rate in cells of a patient with Fanconi's anemia and in Chinese hamster ovary cells. Hum. Genet. 56: 85-88 (1980).