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. 2019 Apr 22;28(16):2659–2674. doi: 10.1093/hmg/ddz084

Figure 7.

Figure 7

Potential pathway convergence of proteins encoded by both ASD DMRs. IRS2 interacts with transmembrane protein IGF1R at the intracellular membrane, resulting in activation of the PI3K/AKT/mTOR and MAPK signaling pathways involved in protein synthesis, cell proliferation and gene expression (81). An AKT-mediated ubiquitin pathway leads to de novo DNA methylation changes by DNMT (84). IRS2 also interacts with cytokine and hormone receptors and induces JAK2/STAT3 signaling (81,83). STAT activation leads to CYP2E1 localization at the endoplasmic reticulum, changing cellular metabolism (74).