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Assaying Radiosensitivity of Ataxia-Telangiectasia

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ATM Kinase

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1599))

Abstract

Ataxia-Telangiectasia (A-T) is a prototypical genomic instability disorder with multi-organ deficiency and it is caused by the defective function of a single gene, ATM (Ataxia-Telangiectasia Mutated). Radiosensitivity, among the pleiotropic symptoms of A-T, reflects the basic physiological functions of ATM protein in the double strand break (DSB)-induced DNA damage response (DDR) and also restrains A-T patients from the conventional radiation therapy for their lymphoid malignancy. In this chapter, we describe two methods that have been developed in our lab to assess the radiosensitivity of A-T patients: (1) Colony Survival Assay (CSA) and (2) Flow Cytometry of phospho-SMC1 (FC-pSMC1). The establishment of these more rapid and reliable functional assays to measure the radiosensitivity, exemplified by A-T, would facilitate the diagnosis of other genomic instability genetic disorders as well as help the treatment options for most radiosensitive patients.

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Author information

Authors and Affiliations

  1. Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, 90095, USA

    Hailiang Hu Ph.D., Shareef Nahas & Richard A. Gatti M.D.

  2. Department of Pathology, Duke University School of Medicine, Durham, NC, 27710, USA

    Hailiang Hu Ph.D.

Authors
  1. Hailiang Hu Ph.D.
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  2. Shareef Nahas
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  3. Richard A. Gatti M.D.
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Corresponding author

Correspondence to Hailiang Hu Ph.D. .

Editor information

Editors and Affiliations

  1. University of Queensland Centre for Clinical Research (UQCCR), University of Queensland, Herston, Queensland, Australia

    Sergei V. Kozlov

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Hu, H., Nahas, S., Gatti, R.A. (2017). Assaying Radiosensitivity of Ataxia-Telangiectasia. In: Kozlov, S. (eds) ATM Kinase. Methods in Molecular Biology, vol 1599. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-6955-5_1

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  • DOI: https://doi.org/10.1007/978-1-4939-6955-5_1

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-6953-1

  • Online ISBN: 978-1-4939-6955-5

  • eBook Packages: Springer Protocols

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