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. 2018 Apr 10;27(12):2171–2186. doi: 10.1093/hmg/ddy126

Figure 2.

Figure 2.

The TAF8: c.781–1G > A mutant protein lacks an NLS and is degraded by the proteasome. (A) Amino acid sequence of WT TAF8 protein aligned to the in silico predicated amino acid sequence generated by the TAF8: c.781-1G > A mutation, which possesses a unique carboxy-terminus (depicted in red), and lacks an NLS (depicted in grey highlight in the WT sequence). Histone fold domain in the WT sequence is highlighted in blue. (B) Two different protein WCE (WCE1 and WCE2) preparations (see Materials and Methods) were analyzed by western blot. Blots were probed with two different polyclonal anti-TAF8 antibodies (affinity purified pAb 3478 and crude pAb 3477 serum) targeting the entire TAF8 protein, as indicated. (C) Patient and control fibroblasts were treated with MG132 for 12 or 18 h, WCEs were prepared and probed with an anti-TAF8 antibody (affinity purified pAb 3477). The presence of a smaller protein, likely corresponding to the mutant TAF8 protein was detected in the presence of MG132.