High spontaneous intrachromosomal recombination rates in ataxia-telangiectasia
- Yale Univ., New Haven, CT (United States)
Ataxia-telangiectasia (A-T) is an inherited human disease associated with neurologic degeneration, immune dysfunctions, 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. 2 refs., 1 fig., 3 tabs.
- OSTI ID:
- 6442134
- Journal Information:
- Science (Washington, D.C.); (United States), Journal Name: Science (Washington, D.C.); (United States) Vol. 260:5112; ISSN SCIEAS; ISSN 0036-8075
- Country of Publication:
- United States
- Language:
- English
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