Document Detail

High spontaneous intrachromosomal recombination rates in ataxia-telangiectasia.
MedLine Citation:
PMID:  8493577     Owner:  NLM     Status:  MEDLINE    
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.
M S Meyn
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Science (New York, N.Y.)     Volume:  260     ISSN:  0036-8075     ISO Abbreviation:  Science     Publication Date:  1993 May 
Date Detail:
Created Date:  1993-06-17     Completed Date:  1993-06-17     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0404511     Medline TA:  Science     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1327-30     Citation Subset:  IM    
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
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MeSH Terms
Ataxia Telangiectasia / genetics*
Cell Line
Cell Line, Transformed
Chromosomes, Human / physiology*
Genetic Complementation Test
Genetic Vectors
Hygromycin B / analogs & derivatives,  pharmacology
Neomycin / pharmacology
Recombination, Genetic*
Grant Support
Reg. No./Substance:
0/Cinnamates; 1404-04-2/Neomycin; 31282-04-9/Hygromycin B; 6379-56-2/hygromycin A

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