Ataxia-Telangiectasia and Nijmegen Breakage Syndrome

  • Junya KobayashiEmail author


Ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are well-known single-gene disorders, which have similar cellular phenotypes, including chromosome instability, radioresistant DNA synthesis, and hypersensitivity to radiation. Such phenotypic similarity implies direct physical association and/or functional interaction between respective gene products. Indeed, the NBS1 protein responsible for NBS interacts with ATM kinase implicated in A-T and regulates ATM activation upon DNA damage; however, NBS1-mediated homologous recombination does not seem to require ATM. Moreover, ATM is activated by oxidative stress independently of NBS1. Thus, ATM and NBS1 are likely to have distinct functions in radiation-induced DNA damage responses or other cellular responses to genomic stresses such as oxidative stress, which should underlie different clinical manifestations of A-T and NBS.


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© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Radiation Biology CenterGraduate School of Biostudies, Kyoto UniversityKyotoJapan

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