High spontaneous intrachromosomal recombination rates in ataxia-telangiectasia.
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.
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
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D000818:Animals; D001260:Ataxia Telangiectasia / Q000235:genetics*; D002460:Cell Line; D002461:Cell Line, Transformed; D002877:Chromosomes, Human / Q000502:physiology*; D002934:Cinnamates; D005816:Genetic Complementation Test; D005822:Genetic Vectors; D006801:Humans; D006921:Hygromycin B / Q000031:analogs & derivatives / Q000494:pharmacology; D051379:Mice; D008938:Mitosis; D009355:Neomycin / Q000494:pharmacology; D010641:Phenotype; D011995:Recombination, Genetic
D002934:Cinnamates; D006921:Hygromycin B; C026273:hygromycin A; D009355:Neomycin