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Table 2 TFBS motifs associated preferentially with FSHD up- vs. downregulated genes in myotubes.

From: Gene expression during normal and FSHD myogenesis

  No. of genes with the motif from 826 promoter regionsa p-value: skewing of up- or dnreg. Prominent functional annotationb
TFBS motif FSH upreg. FSH dnreg. Upreg./dnreg.   FSH upreg. FSH dnreg.
MEF2A 39 101 0.4 < 0.0001 PI3K signaling, 8 genes muscle phenotype, 16 genes
E4BP4 16 42 0.4 0.008 cell adhesion, 5 genes, GO:0007155 none
PPARG 100 43 2.3 0.0001 extracellular matrix, 13 genes, GO:0031012; arachidonic acid, 15 genes cardiac hypertrophy, 7 genes
p53 84 37 2.3 0.0009 inflammation, 29 genes; superoxide, 29 genes Activation of cAMP-dependent PKA, 5 genes
  1. aPredicted transcription factor binding site motifs (TFBS) in the upstream (promoter) region for 403 and 423 genes that displayed the strongest up- or downregulation (p < 0.01), respectively, in FSHD vs. control myotubes. These sites were identified by GeneCards http://genecards.org and were analyzed by Chi-square tests for association with FSHD up- vs. downregulation in myotubes. Of the 126 TFBS scored, the four shown in this table had the strongest association with either FSHD up- or downregulated genes. For PPARG, PPARG1 and PPARG2 motifs were pooled.
  2. bFunctional annotation from GeneDecks http://genecards.org