Figure 7.

WGCNA in AOA2 neural progenitors shows preservation of SETX functional networks and pathways from AOA2 patient blood. (A) Preservation of the key WGCNA SETX modules from AOA2 patient peripheral blood (10) in the AOA2 neural progenitors. Results are plotted by number of module members versus preservation score (Z-summary) calculated using the preservation module function of the WGCNA software package. Z-summary score between 2 and 10 shows moderate preservation and scores less than 2 (dotted line) show weak or no preservation. Moderate preservation of the Turquoise_AOA2_blood module (representing SETX function) from AOA2 patient peripheral blood was observed in the AOA2 neural progenitors. The Blue_AOA2_blood module, representing the AOA2 transcriptional signature, is also weakly preserved. (B) Overlap of the genes in the key AOA2 neural progenitor modules (black, red and turquoise) with those in the Turquoise_AOA2_blood module is shown. (C) GO analysis of the AOA2 neural progenitors black, red and turquoise WGNCA modules. A list of key genes relevant to AOA2 and senataxin function from each module is shown in Supplementary Material, File S5. (D) The turquoise module identified by WGCNA in the AOA2 neural progenitors, which most closely correlates with the Turquoise_AOA2_blood module, is shown. For clarity, only the most highly connected module members are shown. Genes with the highest connectivity (i.e. hubs) are indicated in red.