Figure 1. The BOR mutant L550P fails to translocate into the nucleus in presence of Six.
(A) Eya domain of human Eya1 depicting the disease associated missense mutations included in this study. BOR branchio-oto-renal; BO branchio-otic; OD ocular defects. (B) Cellular localization of Eya1 and disease-associated Eya1 mutants. COS-7 cells were transfected with expression plasmids encoding EGFP-Eya1 or mutants either alone or in combination with Six2. Insets show counterstaining with Hoechst dye. (C) COS-7 cells were transfected with HA-tagged Eya1 or mutants together with FLAG-Six2 or empty vector. Nuclear (N) and cytoplasmic (C) extracts were analyzed by immunoblotting.