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Figure 2 | BMC Medical Genetics

Figure 2

From: Identification of a region required for TSC1 stability by functional analysis of TSC1missense mutations found in individuals with tuberous sclerosis complex

Figure 2

Immunoblot analysis of TSC1 variants. (A) Cells expressing the TSC1 variants and control cells expressing wild-type TSC1 and S6K only (TSC1/S6K), TSC2 and S6K only (TSC2/S6K), S6K only (S6K) or empty vector only (control) were analysed by immunoblotting. (B) Quantification of the immunoblot signals for the TSC1 variants. The integrated intensities of the signals for each variant, relative to wild-type TSC1, were determined in 3 independent experiments. Standard deviations are indicated. Signals significantly reduced compared to wild-type (unpaired t-test, p values < 0.05) are indicated with asterisks. (C) Quantification of the TSC2 signals. The TSC2 signals in the presence of the different TSC1 variants were not significantly different from the signal in the presence of wild-type TSC1 (unpaired t-test, p values >0.05). (D) Inhibition of S6K T389 phosphorylation in the presence of the TSC1 variants. The ratio of the S6K T389 phosphorylation signal to the total S6K signal (T389/S6K) was determined relative to wild-type TSC1 (wild-type TSC1 T389/S6K ratio = 1). Standard deviations are indicated. Variants with a significantly increased T389/S6K ratio (unpaired t-test p values < 0.05) are indicated with asterisks. (E) Quantification of the total S6K signals. The total S6K signals in the presence of the different variants were not significantly different to wild-type TSC1 (unpaired t-test, p values >0.05).

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