Fig. 2

Nuclear lamina-associated gene expression profiling across all samples. a Visualization of Lamin A and Lamin C expression across all samples from RNA-seq data. Lamin A and Lamin C expression obtained from RNA-seq experiments were visualized using heatmaps. Gene expression is shown pooled (left panel) and as replicates (right panel). In general, Lamin A and Lamin C expression are highest for unrelated groups and lowest for patient groups. However, there were no statistically significant differences between Lamin A and Lamin C expression across all samples (FDR adjusted p-value ≥0.05); b RNA-seq validation of Lamin A (LMNA) and Lamin C (LMNC) transcript levels by quantitative PCR (qPCR). qPCR was performed on cDNA generated from unrelated, control and patient fibroblasts to measure Lamin A and Lamin C transcript levels (average QGE +/− standard error of the mean (SEM)). There were no statistically significant differences across all groups in transcript levels for Lamin A [F (2,6)= 0.90, p = 0.46] and for Lamin C [F (2,6)= 1.76, p = 0.25], validating trends observed in RNA-seq. c Western blot for Lamin A/C protein. Lamin A/C protein levels were measured by immunoblotting using antibodies specific against Lamin A/C and Beta Actin (upper panel). Full-length images are available in the supplementary information (Additional File 2: Figure S3). Quantification of Lamin A/C bands relative to Beta Actin (lower panel) showed no significant differences for average AU +/− SEM between groups [Lamin A: F (2,6)= 0.95, p = 0.44 and Lamin C: F (2,6)= 1.63, p = 0.27]. Statistical analysis was performed using One-way ANOVA followed by Tukey post hoc. AU = Absorbance Unit