Abstract
D1Z2 is a highly polymorphic DNA locus composed of a tandem of repetitive units. Its molecular constitution has been examined in 61 clonal cell lines selected at random from two lymphoblastoid cell lines (LCLs), each of which had been proliferating in vitro for several hundred days. Thirty-three of the cells were selected from an LCL derived from the blood of a person with Bloom's syndrome (BS), and the others from a normal person. A total of 20 distinctive band alterations in D1Z2 were observed, all in BS cells: appearance of a novel band(s); disappearance of a band(s), or alterations in the intensity of a band(s). Unequal sister-chromatid exchange giving rise to intra-locus mutation is considered the most plausible explanation for the accumulation of the changes detected.
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Albertini RJ, Castle KL, Borcherding WR (1981) T-cell cloning to detect the mutant 6-thioguanine-resistant lymphocytes present in human peripheral blood. Proc Natl Acad Sci USA 79:6617–6621
Buroker N, Bestwick R, Haight G, Magenis RE, Litt M (1987) A hypervariable repeated sequence on human chromosome 1p36. Hum Genet 77:175–181
Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Ann Biochem 132:6–13
Feinberg AP, Vogelstein B (1984) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity (Addendum). Ann Biochem 137:266–267
German J (1969) Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Am J Hum Genet 21:196–227
German J, Bloom D, Passarge E (1979) Bloom's syndrome. VII. Progress report for 1978. Clin Genet 15:361–367
German J, Schonberg S (1980) Bloom's syndrome. IX. Review of cytological and biochemical aspects. In: Gelboin HV et al. (eds) Proceedings of the 10th International Symposium of the Princess Takamatsu Cancer Research Fund. Japan Scientific Societies Press Tokyo, pp 181–186
German J (1982) A biological role for chromatid exchange in mammalian somatic cells? In: Schimke R (eds) Gene Amplification. Cold Spring Harbor Laboratory. Cold Spring Harbor, NY, pp 307–312
Groden J, Nakamura Y, German J (1990) Molecular evidence that homologous recombination occurs in proliferating human somatic cells. Proc Natl Acad Sci USA 87:4315–4319
Henderson E, Miller G, Robinson J, Heston L (1977) Efficiency of transformation of lymphocytes by Epstein-Barr virus. Virology 76:152–163
Henderson E, German J (1978) Development and characterization of lymphoblastoid cell lines (LCLs) from “chromosome breakage syndromes” and related genetic disorders. J Supramolec Struct 2 [Supp]:83
Jeffreys AJ, Royle NC, Wilson V, Wong Z (1988) Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA. Nature 332:278–281
Kyoizumi S, Nakamura N, Takebe H, Tatsumi K, German J, Akiyama M (1989) Frequency of variant erythrocytes at the glycophorin A locus in two Bloom's syndrome patients. Mutat Res 214:215–222
Langlois RG, Bigbee WL, Jensen RH, German J (1989) Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome. Proc Natl Acad Sci USA 36:670–674
Ledwith BJ, Manam S, Nichols WW, Bradley MO (1990) DNA fingerprinting of 7,12-dimethylbenz[a]anthracene-induced and spontaneous CD-1 mouse liver tumors. Cancer Res 50:5245–5249
Nakamura Y, Julier C, Wolff R, Holm T, O'Connell P, Leppert M, White R (1987) Characterization of a human ‘midisatellite’ sequence. Nucleic Acids Res 15:2537–2546
Nakamura Y, Culver M, Sergeant L, Leppert M, O'Connell P, Lathrop GM, Lalouel J-M, White R (1988) Isolation and mapping of a polymorphic DNA sequence (pYNZ2) on chromosome 1p (D1S57). Nucleic Acids Res 16:4747
Pathak S, Hopwood VL, Hughes JI, Jackson GL (1991) Identification of colon cancer-predisposed individuals: A cytogenetic analysis. Am J Gastroenterol 86:679–684
Ray JH, German J (1983) The cytogenetics of the “chromosomebreakage syndromes.” In: German J (eds) Chromosome mutation and neoplasia. Liss, New York, pp 135–167
Schonberg S, German J, Chaganti RSK (1978) A new cytogenetic finding in Bloom's syndrome: Terminal association of homologous chromosomes at metaphase. Genetics 88 [Suppl]:88–89
Wolff RK, Nakamura Y, White R (1988) Molecular characterization of a spontaneously generated new allele at a VNTR locus: No exchange of flanking DNA sequence. Genomics 3:347–351
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This paper is dedicated to Ulrich Wolf on his 60th birthday and acknowledges his important contributions to human biology
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Groden, J., German, J. Bloom's syndrome. Hum Genet 90, 360–367 (1992). https://doi.org/10.1007/BF00220459
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DOI: https://doi.org/10.1007/BF00220459