High Spontaneous Intrachromosomal Recombination Rates in Ataxia-Telangiectasia
- 28 May 1993
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 260 (5112) , 1327-1330
- https://doi.org/10.1126/science.8493577
Abstract
Ataxia-telangiectasia (A-T) is an inherited human disease associated with neurologic degeneration, immune dysfunction, and high cancer risk. It has been proposed that the underlying abnormality in A-T is a defect in genetic recombination that interferes with immune gene rearrangements and the repair of DNA damage. Recombination was studied in A-T and control human fibroblast lines by means of two recombination vectors. Unexpectedly, spontaneous intrachromosomal recombination rates were 30 to 200 times higher in A-T fibroblast lines than in normal cells, whereas extrachromosomal recombination frequencies were near normal. Increased recombination is thus a component of genetic instability in A-T and may contribute to the cancer risk seen in A-T patients.Keywords
This publication has 29 references indexed in Scilit:
- Mutation Spectrum in γ-Irradiated Shuttle Vector Replicated in Ataxia- Telangiectasia LymphoblastsRadiation Research, 1992
- Relative frequencies of homologous recombination between plasmids introduced into DNA repair-deficient and other mammalian somatic cell linesSomatic Cell and Molecular Genetics, 1990
- Relative Increase of T Cells Expressing the Gamma/Delta Rather Than the Alpha/Beta Receptor in Ataxia-TelangiectasiaNew England Journal of Medicine, 1990
- Establishment of a Novel Immortalized Cell Line from Ataxia Telangiectasia Fibroblasts and Its Use for the Chromosomal Assignment of Radiosensitivity GeneInternational Journal of Radiation Biology, 1990
- Ability of structurally related polycyclic aromatic carcinogens to induce homologous recombination between duplicated chromosomal sequences in mouse L cellsMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1989
- Flow cytometric analysis of X-ray sensitivity in ataxia telangiectasiaMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1989
- Breast and Other Cancers in Families with Ataxia-TelangiectasiaNew England Journal of Medicine, 1987
- Establishment and characterization of a permanent pSV ori−-transformed ataxia-telangiectasia cell lineExperimental Cell Research, 1985
- ATAXIA TELANGIECTASIA: An Inherited Human Disorder Involving Hypersensitivity to Ionizing Radiation and Related DNA-Damaging ChemicalsAnnual Review of Genetics, 1979
- A table for the estimation of the spontaneous mutations rate of cells in cultureMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1973