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. 2016 Nov 25;21(4):802–815. doi: 10.1111/jcmm.13022

Figure 6.

Figure 6

p53 is enhanced by SASH1 mutations and SASH1 mutations induce increased POMC. (A) and (B) SASH1 up‐regulation induced by SASH1 mutations promotes the expression of exogenous p53 (HA‐p53) and exogenous POMC(myc‐POMC) in HEK‐293T cells and NHEMs. HEK‐293T cells and NHEMs were transfected with wt and mutant SASH1, exogenous p53 and exogenous POMC. At 48hr post‐transfection, cells were lysed and protein levels were detected by immunoblot. (C) IHC analysis identified that more endogenous p53 was induced by Y551D‐SASH1 mutation and more p53‐positive epithelial cells was observed in the affected epithelial tissues. Affected epithelial tissues with Y551D SASH1 mutation from pedigree family I as well as normal epithelial tissues were fixed and embedded in paraffin for immunohistochemical analysis. Scale bar: 20 μm. Red arrows show the representative positive cells of p53. (D) and (E) Increased endogenous p53 was triggered by SASH1 mutations in HEK‐293 cells and NHEMs as analysed by Western blot.