Fig. 5

Screening identifies HED-linked mutations in EDAR leading to failed PM translocation. A A drawing structure of human EDAR including signal peptide (SP), extracellular, transmembrane (TM) and intracellular domains. Total six identified point mutations of EDAR exclusively at intracellular domain from HED patients are shown. B Immunoblotting shows the levels of EDAR in HaCaT cells transfected with plasmids expressing each indicated EDAR mutants. Red rectangles show T346M and R420W with undetectable changes. C Quantification of the levels of EDAR-associated proteins in B. The protein levels with no EDA treatment were normalized to 1.0. Data from 3 independent experiments. Error bars indicate mean ± SD. *P < 0.05, **P < 0.01, n.s not significant; Student’s t-test