Figure 2.

Amounts of WASF1 mRNA and WASF1 in Fibroblasts Derived from Affected Individuals with the c.1516C>T Variant

(A) RT-qPCR shows variable amounts of WASF1 mRNA between primary fibroblasts derived from individuals P1 and P2 and healthy control fibroblasts.

(B) Western blot analysis using an antibody with an epitope downstream of Arg506 showed that the amount of full-length WASF1 was approximately 50% lower in affected fibroblasts than in control fibroblasts.

(C) Western blot analysis using an antibody with an epitope in the N-terminal region of WASF1 showed the presence of the full-length and truncated WASF1 in affected fibroblasts. The truncated WASF1 was not present in control fibroblasts. All experiments were performed with fibroblasts derived from three healthy control individuals. Western blots were performed in triplicate, and band intensity was quantified with Image Lab Software (Bio-Rad).

Error bars indicate the range of measurement of triplicate samples.