The impact of X chromosome inactivation on human health

Figures

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  FIGURE 1. Regulation of X-chromosome inactivation (XCI). The TSIX-TAD and XIST-TAD refer to the topologically associating region of TSIX and XIST on the X chromosome, respectively.

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  FIGURE 2. The molecular mechanisms underlying XCI escape. Xa refers to the active X chromosome. Xi refers to the inactive X chromosome.

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  FIGURE 3. XCI skewing in females (adapted from Minks et al., 2008, with modifications). Xm and Xp denote the maternally and paternally derived X chromosomes, respectively, in female embryos. The deeply stained round within the cell represents the heterochromatic inactive X chromosome. The staining of the cells reflects the differential parental origin of their remaining active X chromosome.

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  FIGURE 4. The potential of escape genes from XCI, XCI skewing and XIST/TSIX as biomarkers in human diseases.

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  FIGURE 5. The inactive X chromosome (Xi) reactivation as a therapeutic approach for X-linked disorders. (A) Reactivation of MECP2 in female mouse brain cells using ACVR1 and PDPK1 inhibitors. (B) Synergistic reactivation of the X-inactive chromosome via DNA demethylation and XIST-targeting antisense oligonucleotides. (C) Reactivation of MECP2 using dCas9 and dCpf1 editors.