An iPSC-based model of 47,XYY Jacobs syndrome reveals a DNA methylation-independent transcriptional dysregulation shared with male X aneuploid cells

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Figure 7.
Figure 7.

The shared dysregulated genes in X and Y aneuploidies define the transcriptomic signature of sex aneuploidies. (A) Venn diagram showing overlapping DEGs in the 47,XYY versus 46,XY (blue circle) and 47,XXY versus 46,XY (pink circle) contrasts in fibroblasts. FDR < 0.05 and LogFC > |0.58|. (B) Genome-wide interaction analysis showing the number of DEGs that display an opposite or concordant dysregulation trend in the two contrasts in fibroblasts. For the complete gene list, see Supplemental Data S9. (C,D) Gene Ontology enrichment analysis on concordantly upregulated (C) or downregulated (D) DEGs in the KS and JS versus 46,XY fibroblasts. (E) Venn diagram showing overlapping DEGs in the 47,XYY versus 46,XY (blue circle) and 47,XXY versus 46,XY (pink circle) contrasts in iPSCs. (F) Genome-wide interaction analysis on DEGs with opposite or concordant dysregulation in the two contrasts in iPSCs. For the complete gene list, see Supplemental Data S9. (G) Gene Ontology enrichment analysis on the shared concordant DEGs in the KS and JS versus 46,XY fibroblasts. FDR < 0.05 and Log2FC > |0.58|. (BP) Biological processes; (MF) Molecular functions; (CC) cellular components.

This Article

  1. Genome Res. 35: 1503-1517

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