Literature DB >> 1483691

Bloom's syndrome. XVIII. Hypermutability at a tandem-repeat locus.

J Groden1, J German.   

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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Year:  1992        PMID： 1483691     DOI： 10.1007/bf00220459

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  16 in total

1.  Characterization of a human 'midisatellite' sequence.

Authors:  Y Nakamura; C Julier; R Wolff; T Holm; P O'Connell; M Leppert; R White
Journal:  Nucleic Acids Res       Date:  1987-03-25       Impact factor: 16.971

2.  Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA.

Authors:  A J Jeffreys; N J Royle; V Wilson; Z Wong
Journal:  Nature       Date:  1988-03-17       Impact factor: 49.962

3.  DNA fingerprinting of 7,12-dimethylbenz[a]anthracene-induced and spontaneous CD-1 mouse liver tumors.

Authors:  B J Ledwith; R D Storer; S Prahalada; S Manam; K R Leander; M J van Zwieten; W W Nichols; M O Bradley
Journal:  Cancer Res       Date:  1990-09-01       Impact factor: 12.701

4.  Molecular characterization of a spontaneously generated new allele at a VNTR locus: no exchange of flanking DNA sequence.

Authors:  R K Wolff; Y Nakamura; R White
Journal:  Genomics       Date:  1988-11       Impact factor: 5.736

5.  Bloom's syndrome. VII. Progress report for 1978.

Authors:  J German; D Bloom; E Passarge
Journal:  Clin Genet       Date:  1979-04       Impact factor: 4.438

6.  Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome.

Authors:  R G Langlois; W L Bigbee; R H Jensen; J German
Journal:  Proc Natl Acad Sci U S A       Date:  1989-01       Impact factor: 11.205

7.  "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1984-02       Impact factor: 3.365

8.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

9.  T-cell cloning to detect the mutant 6-thioguanine-resistant lymphocytes present in human peripheral blood.

Authors:  R J Albertini; K L Castle; W R Borcherding
Journal:  Proc Natl Acad Sci U S A       Date:  1982-11       Impact factor: 11.205

10.  Molecular evidence that homologous recombination occurs in proliferating human somatic cells.

Authors:  J Groden; Y Nakamura; J German
Journal:  Proc Natl Acad Sci U S A       Date:  1990-06       Impact factor: 11.205
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  10 in total

Review 1.  Bloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases.

Authors:  Christelle de Renty; Nathan A Ellis
Journal:  Ageing Res Rev       Date:  2016-05-26       Impact factor: 10.895

2.  Minisatellite variants generated in yeast meiosis involve DNA removal during gene conversion.

Authors:  A J Bishop; E J Louis; R H Borts
Journal:  Genetics       Date:  2000-09       Impact factor: 4.562

3.  Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism.

Authors:  P J White; R H Borts; M C Hirst
Journal:  Mol Cell Biol       Date:  1999-08       Impact factor: 4.272

4.  Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene.

Authors:  N Chester; F Kuo; C Kozak; C D O'Hara; P Leder
Journal:  Genes Dev       Date:  1998-11-01       Impact factor: 11.361

5.  Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.

Authors:  Hamed Mirzaei; Kristina H Schmidt
Journal:  Proc Natl Acad Sci U S A       Date:  2012-11-05       Impact factor: 11.205

6.  Bloom syndrome and maternal uniparental disomy for chromosome 15.

Authors:  T Woodage; M Prasad; J W Dixon; R E Selby; D R Romain; L M Columbano-Green; D Graham; P K Rogan; J R Seip; A Smith
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

7.  Complex recombination events at the hypermutable minisatellite CEB1 (D2S90).

Authors:  J Buard; G Vergnaud
Journal:  EMBO J       Date:  1994-07-01       Impact factor: 11.598

8.  Somatic frameshift mutations in the Bloom syndrome BLM gene are frequent in sporadic gastric carcinomas with microsatellite mutator phenotype.

Authors:  G Calin; G N Ranzani; D Amadori; V Herlea; I Matei; G Barbanti-Brodano; M Negrini
Journal:  BMC Genet       Date:  2001-08-14       Impact factor: 2.797

9.  Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.

Authors:  Vivek M Shastri; Kristina H Schmidt
Journal:  Mol Genet Genomic Med       Date:  2015-11-26       Impact factor: 2.183

10.  Increased rate of spontaneous mitotic recombination in T lymphocytes from a Bloom's syndrome patient using a flow-cytometric assay at HLA-A locus.

Authors:  Y Kusunoki; T Hayashi; Y Hirai; J Kushiro; K Tatsumi; T Kurihara; M Zghal; M R Kamoun; H Takebe; A Jeffreys
Journal:  Jpn J Cancer Res       Date:  1994-06
  10 in total

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