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. 2015 Oct 29;97(5):661–676. doi: 10.1016/j.ajhg.2015.10.001

Figure 4.

Figure 4

Cellular and Biochemical Characterization of Family 616 Variant p.Val594Gly in a Normal Thyroid Cell Line

(A) Normal thyroid Nthy-ori 3-1 cells were stably transduced with wild-type and mutant c.1781T>G (p.Val594Gly) SEC23B fused with GFP. Wild-type cells (Nthy-SEC23B-WT) showed SEC23B localization typical of ER proteins, whereas a subset of mutant cells (Nthy-SEC23B-V594G) showed aberrant aggregation of SEC23B. Scale bars represent 20 μm.

(B) Western blot and densitometric analysis of overexpressed SEC23B, endogenous SEC23B and paralog SEC23A, and GAPDH (loading control) from stable cell lines. Wild-type and mutant Nthy-SEC23B-V594G cells showed similar levels of SEC23B and SEC23A. The Nthy-EGFP cell line was used as a negative control to indicate baseline levels of SEC23B and SEC23A in the cell line (no SEC23B overexpression in these cells). Exogenous SEC23B-GFP normalized to the wild-type, and endogenous SEC23B and SEC23A normalized to levels in the Nthy-EGFP cell line.