Altered X-chromosome inactivation predisposes to autoimmunity

Sci Adv. 2024 May 3;10(18):eadn6537. doi: 10.1126/sciadv.adn6537. Epub 2024 May 3.

Abstract

In mammals, males and females show marked differences in immune responses. Males are globally more sensitive to infectious diseases, while females are more susceptible to systemic autoimmunity. X-chromosome inactivation (XCI), the epigenetic mechanism ensuring the silencing of one X in females, may participate in these sex biases. We perturbed the expression of the trigger of XCI, the noncoding RNA Xist, in female mice. This resulted in reactivation of genes on the inactive X, including members of the Toll-like receptor 7 (TLR7) signaling pathway, in monocyte/macrophages and dendritic and B cells. Consequently, female mice spontaneously developed inflammatory signs typical of lupus, including anti-nucleic acid autoantibodies, increased frequencies of age-associated and germinal center B cells, and expansion of monocyte/macrophages and dendritic cells. Mechanistically, TLR7 signaling is dysregulated in macrophages, leading to sustained expression of target genes upon stimulation. These findings provide a direct link between maintenance of XCI and female-biased autoimmune manifestations and highlight altered XCI as a cause of autoimmunity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Autoimmunity* / genetics
  • B-Lymphocytes / immunology
  • B-Lymphocytes / metabolism
  • Dendritic Cells / immunology
  • Dendritic Cells / metabolism
  • Female
  • Lupus Erythematosus, Systemic / genetics
  • Lupus Erythematosus, Systemic / immunology
  • Lupus Erythematosus, Systemic / pathology
  • Macrophages* / immunology
  • Macrophages* / metabolism
  • Male
  • Membrane Glycoproteins / genetics
  • Membrane Glycoproteins / metabolism
  • Mice
  • RNA, Long Noncoding / genetics
  • Signal Transduction
  • Toll-Like Receptor 7* / genetics
  • Toll-Like Receptor 7* / metabolism
  • X Chromosome Inactivation*

Substances

  • Toll-Like Receptor 7
  • RNA, Long Noncoding
  • Tlr7 protein, mouse
  • XIST non-coding RNA
  • Membrane Glycoproteins