Figure 2

Characterisation of Tensin3 protein expression in proband and control fibroblasts. A: Schematic representation of wildtype Tensin3 and ExoC6B proteins, as well as putative chimeric proteins that could arise from unimpeded expression of the two new open reading frames created from the chromosomal translocation. Amino acid number is shown at the N and C terminal ends and identified protein domains are indicated in boxes within each protein. In the chimeric proteins, jagged lines indicate the fusion point of the wildtype sequence with that of a novel open reading frame. B, C: Western blots of Tensin3 expression in proband and control fibroblasts. Equal amounts of total protein from each cell extract were run on SDS-PAGE. Blots show immunoreactivity of two different anti-Tensin3 antibodies recognising the Tensin3 N-terminal, Santa Cruz (B) and Sigma (C). The Tensin3 band is indicated by an arrow. In blot c, lane 1 contains HEK 293 cell extract expressing recombinant human Tensin3 as a positive control. All blots are representatives of three separate western blots performed.