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Am J Hum Genet ; 47(3): 459-69, 1990 Sep.
Article in English | MEDLINE | ID: mdl-1697445

ABSTRACT

XR-1 is a Chinese hamster ovary (CHO) cell mutant which is unusually sensitive to killing by gamma rays in the G1 portion of the cell cycle but has nearly normal resistance to gamma-ray damage in late S phase. The cell-cycle sensitivity correlates with the mutant's inability to repair DNA double-strand breaks (DSBs) produced by ionizing radiation and restriction enzymes. We have previously shown in somatic cell hybrids of XR-1 cells and human fibroblasts that the XR-1 mutation is a recessive mutation. In this study, using somatic cell hybrids formed between XR-1 and human fibroblasts, we map the human complementing gene to chromosome 5 by chromosome-segregation analysis. This gene biochemically restores the hamster defect to wild-type levels of gamma-ray and bleomycin resistance as well as restoring its proficiency to repair DNA DSBs, suggesting that a single gene is responsible for the XR-1 phenotype. We have tentatively assigned the name XRCC4 (X-ray-complementing Chinese hamster gene 4) to this human gene until its biochemical function in repair is discovered.


Subject(s)
Chromosomes, Human, Pair 5 , DNA Damage , DNA Repair , Animals , Bleomycin/pharmacology , Cell Cycle , Cell Line , Chromosome Mapping , Cricetinae , DNA/radiation effects , Drug Resistance , Fibroblasts , Gamma Rays , Genetic Complementation Test , Humans , Hybrid Cells , Karyotyping , Mutation , Phenotype
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