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Letters to Nature
Nature 306, 206 - 208 (10 November 1983); doi:10.1038/306206a0

Molecular identification of a human DNA repair gene following DNA-mediated gene transfer

Jaime S. Rubin, Alexandra L. Joyner, Alan Bernstein & Gordon F. Whitmore

Department of Medical Biophysics, University of Toronto and Physics and Bioresearch Divisions, Ontario Cancer Institute, Toronto, Ontario, Canada M4X 1K9.

Although it has long been evident that the response of eukary-otes to DNA damaging agents is determined by the effectiveness of a variety of DNA repair systems, there is little detailed knowledge of the nature of these systems or the genes which control them. In humans, a number of hereditary conditions, including xeroderma pigmentosum, ataxia telangiectasia and Fanconi's anaemia, exhibit increased sensitivity to a variety of DNA damaging agents and a predisposition to cancer, suggesting a defect in some aspect of DNA repair1. This report describes the identification of a human DNA repair gene following DNA-mediated gene transfer into Chinese hamster ovary (CHO) mutant cells2,3, that like xeroderma pigmentosum cells, are sensitive to a variety of DNA damaging agents and are defective in the initial incision step of DNA repair4. The resulting transformants exhibit normal resistance to DNA damaging agents and independent transformants demonstrate a common set of human DNA sequences associated with a human DNA repair gene. These observations provide the basis for the isolation and characterization of the human genes responsible for DNA repair.

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