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. 2020 Apr 9;106(5):623–631. doi: 10.1016/j.ajhg.2020.03.009

Figure 2.

Figure 2

NUP188 p.Ile302Valfs∗7 and p.Tyr1048∗ Result in Loss of Full-Length NUP188

(A) Western blot of nuclei isolated from individual 1 and control fibroblasts stained with an antibody against NUP188 reveals full-length NUP188 (~188 kDa) is undetectable in individual 1. LAMB1 is used as a loading control. Individual 1 has compound heterozygous truncating variants NUP188 p.Ile302Valfs∗7 and p.Tyr1048∗. Experiment was performed in triplicate, and representative images are shown.

(B) Immunofluorescent staining of NUP188 in fibroblasts from individual 1 and a control individual. NUP188 (green) localizes to the nucleus in control fibroblasts but is undetectable in fibroblasts from individual 1. The experiment was performed in triplicate (n = 20 cells each), and representative images are shown. The scale bar represents 20 μm. Immunoblot and immunofluorescence data for individual 2 corroborate staining patterns seen in individual 1 and can be found in in Figure S1.