Table 3.
Some pathways and functional terms overrepresented among FSHD-dysregulated genes.
| Functional termsa | Mb or Mt |
No. of up- or dnreg. genes |
Ratiob |
|---|---|---|---|
| RNA-induced silencing complex | Mt | 4 dn | 0.80 |
| Mb | 1 dn | 0.20 | |
| Fatty acid elongation in mitochondria | Mb | 7 up | 0.44 |
| Mt | 2 up | 0.13 | |
| Extracellular matrix | Mt | 35 up, 1 dn | 0.30 |
| Mb | 4 up, 2 dn | 0.05 | |
| NRF2-mediated oxidative stress response | Mt | 15 up, 7 dn | 0.13 |
| Mb | 7 up | 0.04 | |
| HIF1α Signaling | Mt | 6 up, 7 dn | 0.12 |
| Mb | 5 up | 0.05 | |
| Regulation of actin-based motility by Rho | Mt | 9 up, 3 dn | 0.10 |
| Mb | 6 up | 0.07 | |
| Mitochondrial matrix | Mt | 18 up, 5 dn | 0.11 |
| Mb | 22 up, 1 dn | 0.11 | |
| Oxidative phosphorylation | Mt | 18 up | 0.16 |
| Mb | 11 up | 0.09 | |
| Induction of apoptosis | Mt | 13 up, 5 dn | 0.09 |
| Mb | 8 up, 2 dn | 0.05 | |
| Anti-apoptosis | Mt | 16 up, 3 dn | 0.10 |
| Mb | 4 up | 0.02 | |
aOverrepresented functional terms for genes up- or downregulated (p < 0.01) in FSHD vs. control myoblasts (Mb) or myotubes (Mt) were identified by bioinformatics programs. Details and the names of the dysregulated genes are given in Additional File 8 Table S5.
bThe number of genes for a given pathway or GO-term that were up- or downregulated in FSHD vs. control myogenic cells/the total number of genes for that pathway or GO-term that were included in the microarray.