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Science 28 May 1993:
Vol. 260. no. 5112, pp. 1327 - 1330
DOI: 10.1126/science.8493577
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Articles

Science, Vol 260, Issue 5112, 1327-1330
Copyright © 1993 by American Association for the Advancement of Science

articles

High spontaneous intrachromosomal recombination rates in ataxia-telangiectasia

MS Meyn

Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.

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.


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