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Ataxia-Telangiectasia and Nijmegen Breakage Syndrome

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Abstract

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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Authors and Affiliations

  1. Radiation Biology Center, Graduate School of Biostudies, Kyoto University, Kyoto, Japan

    Junya Kobayashi

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  1. Junya Kobayashi
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Correspondence to Junya Kobayashi .

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Editors and Affiliations

  1. Department of Dermatology, Graduate School of Medicine, Kobe University, Kobe, Japan

    Chikako Nishigori

  2. Biosignal Research Center, Kobe University, Kobe, Japan

    Kaoru Sugasawa

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Kobayashi, J. (2019). Ataxia-Telangiectasia and Nijmegen Breakage Syndrome. In: Nishigori, C., Sugasawa, K. (eds) DNA Repair Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-10-6722-8_13

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  • DOI: https://doi.org/10.1007/978-981-10-6722-8_13

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