Fig. 1: Identification and functional defects of COL3A1 mutations. | Cell Death Discovery

Fig. 1: Identification and functional defects of COL3A1 mutations.

From: The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome

Fig. 1

(A) Sanger sequence traces of PCR products from DNA of primary patient fibroblasts cultures, covering COL3A1 G906R and G189S mutation. WT: control primary dermal fibroblast. Black arrow indicates position of heterozygous mutation. (B) Diagram showing position of mutation within the collagen III protein and protein domain structure. (C) Cell proliferation analysis of wild type (WT), COL3A1G189S/+ (G189S) and COL3A1G906/+ (G906R) cells (n = 3, Two-Way ANOVA). (D) Percentage apoptotic cells determined by FACS (Annexin V, propidium iodide positive, FACS scatter plot provided in Supplemental Fig. 1)) of wild type (WT), COL3A1G189S/+ (G189S) and COL3A1G906/+ (G906R) cells (n = 3; One-way ANOVA with Dunnett’s multiple comparison test). (E) Brightfield microscopy shows flattened irregular shaped enlarged cells particularly in COL3A1G189S/+. (F) qRT-PCR reveals increased mRNA levels of p21, marker of senescence, in COL3A1G189S/+ cells (n = 3, Mann-Whitney test). * p < 0.05; ** p < 0.01; *** p < 0.001 **** p < 0.0001.

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