PMID: 2507910Oct 1, 1989Paper

Hypersensitivity to mitomycin C cell-killing in Roberts syndrome fibroblasts with, but not without, the heterochromatin abnormality

Mutation Research
M A Burns, D J Tomkins

Abstract

Roberts syndrome (RS) is a rare genetic disorder, characterized clinically by severe pre- and post-natal growth retardation and symmetric limb reduction deformities. Some patients with RS have a distinctive abnormality of the constitutive heterochromatin (the RS effect) which has been described as a premature separation of the paracentromeric and nucleolar organizing regions of the chromosomes and the distal portion of the long arm of the Y chromosome (German, 1979). These patients [denoted RS(+)] are clinically indistinguishable from the RS(-) patients who lack the cytogenetic marker for Roberts syndrome. Recently, a mutant in Drosophila has been described which has both heterochromatin undercondensation and hypersensitivity to mutagen treatment (Gatti et al., 1983). The authors suggested that the uncondensed heterochromatin may be more accessible to damage by mutagens. Thus, the present study was an investigation of the mutagen sensitivity in Roberts syndrome, to determine whether there is a similar relationship between abnormal heterochromatin structure and mutagen sensitivity. Plating efficiency experiments were performed with RS(+) fibroblasts, RS(-) fibroblasts, RS heterozygous fibroblasts and a large assortment of approp...Continue Reading

References

Jan 1, 1978·Annual Review of Genetics·C F Arlett, A R Lehmann
Jan 1, 1979·American Journal of Medical Genetics·D TomkinsM Roberts
Nov 1, 1979·Journal of Cellular Physiology·R WeksbergL Siminovitch
Oct 1, 1975·Proceedings of the National Academy of Sciences of the United States of America·S A LattP S Gerald
Feb 1, 1987·Journal of Medical Genetics·J G Hall
Mar 1, 1987·Clinical Genetics·C RömkeE Schwinger
Jan 1, 1974·Clinical Genetics·M V FreemanJ German
Jan 1, 1982·Cytogenetics and Cell Genetics·T M Schroeder
Dec 1, 1961·Experimental Cell Research·L HAYFLICK, P S MOORHEAD

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Citations

Jul 1, 1993·Somatic Cell and Molecular Genetics·D J Van den Berg, U Francke
Feb 18, 2011·Nature Reviews. Cancer·Huiling XuMichael J McKay
May 12, 2005·American Journal of Human Genetics·Lisa D McDanielRoger A Schultz
Apr 16, 2008·Human Molecular Genetics·Miriam GordilloEthylin Wang Jabs
Nov 15, 1993·American Journal of Medical Genetics·D J Van Den Berg, U Francke
Jan 1, 1991·American Journal of Medical Genetics·L D KeppenJ E Sisken
Aug 5, 2000·American Journal of Medical Genetics·L D McDanielR A Schultz
Jan 16, 1995·American Journal of Medical Genetics·D J Allingham-Hawkins, D J Tomkins
Dec 14, 2021·G3 : Genes - Genomes - Genetics·Michael G Mfarej, Robert V Skibbens

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