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. Author manuscript; available in PMC: 2018 Nov 30.
Published in final edited form as: Hum Mutat. 2017 Jan 23;38(4):409–425. doi: 10.1002/humu.23170

Figure 5. The EIF2S3 C-terminal Mutation is Associated with Elevated DDIT3/CHOP Transcript and Protein Levels in Patient Fibroblasts.

Figure 5.

A: Expression of DDIT3 mRNA in patient and control fibroblasts measured using RT-qPCR. Levels are normalized to the control and expressed as 2-dCq with SD. *** P <0.001, t-test. Patient fibroblasts show an increased DDIT3 transcript level compared to controls.

B: Representative Western blot analysis of protein lysates from patient fibroblasts (index from family 3) with C-terminal deleted EIF2S3 and three controls. Whole cell lysate from patient and control fibroblasts was concentrated and separated on SDS-PAGE. The gel was blotted and probed with an anti-CHOP antibody (upper panel). The blot was subsequently probed with an anti-tubulin antibody as a loading control (bottom panel). Quantification of the specific bands from Western blots was performed using ImageJ software, and CHOP levels were normalized to tubulin levels. Histogram of five independent experiments shows a statistically significant increase in CHOP levels in patient fibroblasts compared to controls. The data were assessed with a one-way analysis of variance (ANOVA) followed by Tukey’s multiple comparison test (** P ≤ 0.01, *** P ≤ 0.001).