Fig. 3

Molecular signature of NUP155 truncation in a pluripotent genome. Deep transcriptome profiling of WT and NUP155^+/− embryonic stem cells was performed using RNAseq. a Principal component analysis (PCA) revealed distinct hallmark gene expression profiles with clear segregation of WT from NUP155^+/− transcriptomes. Filled circles represent ES (dark grey) and NUP155^+/− (light green) transcriptomes of distinct biological replicates, plotted in a three dimensional volumetric space. Axes: X – PC1 (24.08%), Y – PC2 (13.2%), Z – PC3 (10.38%). b Pairwise correlation of samples reveals reproducible clustering of discrete up and downregulated gene expression patterns that define ES and NUP155^+/− populations. Lower right: colorscale indicates normalized intensity, where red, yellow, and blue represent upregulated, no change, and downregulated trends, respectively. c Volcano plot of gene expression changes to enumerate up and downregulated mRNA in the NUP155^+/− transcriptome, according to criteria of absolute Fold Change (FC) > 2.0 and p < 0.05. Filled circles in red represent up-regulated genes that meet this criteria, while blue circles represent downregulated transcripts. Circles in grey indicate genes that fall below the indicated threshold values. A total of 326 genes were identified that met the filtering parameters, with 176 up and 150 downregulated, respectively. PC – Principal Component