Fig. 4: Dup and Inv1 chromatin rearrangements have an impact on gene expression. | Nature Communications

Fig. 4: Dup and Inv1 chromatin rearrangements have an impact on gene expression.

From: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

Fig. 4

a Bar plot representing the rpkm value normalized to wild-type for genes in the Lbx1 and Fgf8 TADs and flanking genes (Slf2 and Twnk (centromeric), Oga (telomeric)) from RNA-seq data of homozygous Dup and Inv1 E11.5 limb buds. n = 2 biological replicates per condition. Schematic of the locus shows the position of the genes, the TAD boundaries (red hexagons) and the parts included in the Dup and the Inv1 mutants. Wild-type Dup and Inv1 samples are shown in black, green and orange, respectively. b Uniform manifold approximation and projection (UMAP) showing 8 cell clusters identified via scRNA-seq of E11.5 mouse limbs from wild-type, Dup and Inv1 mutants (n = 1). c Violin plot representing the normalized expression of the 6 genes at the locus in AER, dorso-ventral (DV) ectoderm, mesenchyme and myocytes from E11.5 hindlimbs. The Dup mutant (green) was generated in a C57Bl6 background and thus compared to a C57Bl6 wild-type sample (dark grey) whereas the Inv1 mutant (orange) was generated in a G4 (129sv x C57Bl6) and compared to a G4 wild-type sample (light grey).

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