POLR3 gene and protein expression dynamics in 4H 193 6 Individual differences in POLR3 gene expression To assess the contribution of individual differences to POLR3 gene expression, intraclass correlation coefficients (ICCs) were calculated. POLR3A expression showed substantial inter-individual variability (ICC = 0.676; i.e., after accounting for disease status and cell type, 67.6% of the variability in POLR3A expression is due to differences between individuals), whereas POLR3B expression demonstrated that more between-individual (i.e., residual) variance contributes to its variability (ICC = 0.270). These results indicate that individual genetic background contributes considerably to POLR3A expression variability, but this is less so for POLR3B. Figure 1: POLR3A and POLR3B gene expression varies between cell types. Relative gene expression of POLR3A (A) and POLR3B (B) as determined by quantitative PCR comparing cell types (iPSC, NES, neurons) and control against 4H. Open circles represent controls, solid circles represent individuals with 4H caused by POLR3A (dark) or POLR3B (light) variants. Disease status graphs (A2, B2) represent the average relative gene expression across all three cell types, indicated with squares. Horizontal lines across the circles/squares reflect the median. Data was analyzed using a linear mixed-effects model after removal of influential outliers (indicated with “). * Significance was assessed at p < 0.05, ** p < 0.01 or *** p < 0.001.
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