Fig. 2 | Nature Communications

Fig. 2

From: Intron retention and nuclear loss of SFPQ are molecular hallmarks of ALS

Fig. 2

Transcripts involved in neural induction exhibit widespread intron retention in MNs derived from FUS and SOD1 ALS-causing mutations. a Boxplots displaying the distribution of percentage retention for 167 manually curated introns in control MNs (white box), FUSmu mutant MNs (grey box) or SOD1mu MNs samples (blue bar)28,50. Mutant samples exhibit systematically a higher proportion of IR compared with controls. Boxplots are as shown in Fig. 1h. b Hierarchically clustered (Manhattan distance and Ward clustering) heatmap of relative IR levels in 40 genes showing statistically significant retention during motor neurogenesis in both SOD1mu and FUSmu MNs. Blue circles = SOD1mu samples, grey circles = FUSmu samples and empty circles = control samples. c Network of protein–protein interactions for genes exhibiting IR during motor neurogenesis in either SOD1mu or FUSmu MNs. Edges represent experimentally determined protein–protein interactions annotated in the STRING database51. Nodes indicate proteins, coloured according to the conditions in which the corresponding transcript displays IR; circle sizes are in proportion to the number of edges in the network. d Bar graphs showing the enrichment scores (P-value from Fisher count test) of GO biological pathways associated with genes that exhibit IR during motor neurogenesis in SOD1mu and/or FUSmu MNs compared with controls

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