抄録
Mutations in the Recql helicase domain cause several genetic disorders in humans, including Werner syndrome, Rothmund-Thomson syndrome and Bloom syndrome. Common phenotypes of these diseases include premature aging and shortened lifespan. Genomic instability is also observed in the cells of these patients. In order to understand the role of RECQL4, which is the product of the gene responsible for the Rothmund-Thomson syndrome, we prepared two independent +/- ES cell lines and established two -/- cell lines from one and one -/- cell line from the other. Using these, we measured sensitivity to several genotoxical reagents, including hydroxyurea, mitomycin C, UV and IR. We discuss the role of RECQL4 using the results of our assay. [J Radiat Res 44:442-443 (2003)]
