Extended Data Fig. 6: Orthologous rs72928038 region binds STATs and ETS1 and deletion of the region in CD8 T cells partially recapitulates transcriptional phenotypes of Bach2-deficient Tscms. | Nature Genetics

Extended Data Fig. 6: Orthologous rs72928038 region binds STATs and ETS1 and deletion of the region in CD8 T cells partially recapitulates transcriptional phenotypes of Bach2-deficient Tscms.

From: Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells

Extended Data Fig. 6

a) STAT and ETS1 TF ChIP-seq peaks30 overlapping mouse rs72928038 ortholog. b) PCA on RNA-seq of naïve CD4 T cells from WT and Bach218del mice. c) Bach2 expression in WT and Bach218del naïve CD4 T cells from RNA-seq normalized counts. d) GSEA enrichment of Bach218del vs. WT naïve CD8 (left) and CD4 (right) T cells. Depicted GSEA results for a gene set derived from genes upregulated in empty vector vs. Bach2 sgRNA-transduced Tscms (d left and right) and genes upregulated in Bach2 sgRNA-transduced Tscms vs. empty vector (d middle). Full GSEA results are shown in Supplementary Table 16. e) Expression of genes in Tscms that have been transduced with empty vector or a Bach2 sgRNA (same experiment as in d) for differentially expressed genes in Bach218del vs. WT naïve CD8 T cells. Genes upregulated in Bach218del T cells as compared to WT are on the left and downregulated are on the right. Normalized enrichment score (NES) in (d) was calculated based on observed enrichment as compared to enrichments from permuted data as previously described and statistical significance shown as the false discovery rate (q). P value in (b) was determined by a two-sided Wald test from normalized counts and adjusted P value was determined using Benjamini Hochberg adjustment. For (b-e), n = 3 independent animals.

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