Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
Fig 6
PIK3C2B levels are increased by PIK3C2A deficiency.
PIK3C2B mRNA levels were detected by qRT-PCR in (A) Family I, (B) Family II, and (C) Family III. qRT-PCR data is represented as mean ± SEM (n = 3 technical replicates per sample). The WT sample in Fig 6A is based on n = 1 and the WT sample in Fig 6B is based on n = 3, totaling n = 4 different WT samples. (D) PIK3C2B protein levels were detected by Western blotting in Family I from 2 independent experiments. (E) PIK3C2A and PIK3C2B protein levels were analyzed in HeLa cells by Western blotting following doxycycline inducible shRNA mediated knockdown of PIK3C2A. Data shown is representative from 3 independent experiments. * indicates p < 0.05, ** indicates p < 0.01. *** indicates p < 0.0001.