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. 2017 Dec 4;8:1683. doi: 10.3389/fimmu.2017.01683

Figure 1.

Figure 1

Assessment of ATM mutation (A), ATM protein level (B), and ATM kinase activity (C). (A) Direct sequencing of ATM exon 12 reveals heterozygosity for the novel frameshift mutation c.1402_1403delAA in genomic DNA from the sister (HA591) but not the brother (HA592). (B) Immunoblotting detects ATM protein in lymphoblastoid cells from both patients (HA591, HA592). Lymphoblastoid cell lines (LCLs) from a healthy individual were used as an ATM-proficient control (HA325), and LCLs from a patient with classical ataxia–telangiectasia were used as an ATM-deficient control (HA56). DNA-dependent protein kinase, catalytic subunit, served as the loading control (DNA-PKcs). (C) Immunoblotting of cells after irradiation reveals radiation-induced phosphorylation of the ATM substrate KAP1 at Ser824. Cells were irradiated with 0, 1.5, or 6 Gy, respectively, and proteins were extracted at 30 min after irradiation. LCLs from a healthy individual were used as an ATM-proficient control (HA325), and LCLs from a patient with classical ataxia–telangiectasia were used as an ATM-deficient control (HA56). β-actin served as the loading control (ACTB).