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Figure 4. Pibf1 localization to MCC basal bodies is attenuated in nonsense JS variant. (A–C) Localization of the endogenous Pibf1 protein, using an anti-PIBF1 antibody (A) and co-staining with Centrin 1 (B) and Hoechst 33342 to highlight the nucleus (C). (D–F) An EGFP-PIBF1 fusion protein recapitulates the staining of the endogenous protein. (G–I) Unaltered expression of the missense allele Y503C. (J–L) Attenuated basal body localization of the truncated Q485* variant of PIBF1. Arrowheads mark protein aggregates observed upon overexpression of EGFP fusion |
