Fig. 5: Expression of PAX7 P112L-C443Y in myoblasts reproduces key transcriptomic features found in the proband. | Cell Death & Disease

Fig. 5: Expression of PAX7 P112L-C443Y in myoblasts reproduces key transcriptomic features found in the proband.

From: Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy

Fig. 5: Expression of PAX7 P112L-C443Y in myoblasts reproduces key transcriptomic features found in the proband.

A Schematic of experimental setup and PCA analysis on transcriptomes from patient and control samples. Volcano plot reports significant DEGs (differentially expressed genes) with p ≤ 0.05 and log2FC ≥ 0.5 between the two patient biopsies and three control samples. The number of up- (pink) and down- regulated (light blue) DEGs is reported. B Comparative transcriptomic analysis showing 2 differentially expressed genes of the 213 robustly expressed DUX4-target genes from [54] in the proband’s transcriptome. Expression values (Transcripts Per Million Reads) of CXCR4 and TENT5C in patient transcriptome compared to control samples are reported. C Gene Ontology analysis on up-regulated genes (pink in A) in proband muscle biopsy samples showing annotation in indicated datasets. Expression of the unique 17 genes listed in Reactome GOs referring to mRNA splicing in proband (orange) or control muscle (blue) biopsies efficiently separated by hierarchical clustering analysis. D RT-qPCR showing significantly increased expression of indicated genes in PAX7mut myoblasts compared to PAX7wt. E Gene Ontology analysis on down-regulated genes (light blue in A) in proband muscle biopsy samples showing annotation in indicated datasets. F. Expression of 13 protein-encoding mitochondrial genes in the muscle biopsies from proband (orange) and three independent control muscle samples (blue). G Transcriptomic analysis showing significantly increased PPARGC1A (PGC1α) in proband biopsies. H Representative mitochondrial staining in PAX7wt and PAX7mut cells indicate no overt defects in mitochondria. I Quantification of Mitochondrial Reactive Oxygen Species (mitoROS) shows a significant increase in PAX7mut compared to PAX7wt control cells. J RT-qPCR showing an increased PGC1α expression in PAX7mut myoblast cell line compared to PAX7wt. All graphs report False discovery rate (FDR, q value) or unpaired t test analysis (p value). Scale bar 100 µm.

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