Nature Communications (Nov 2022)

Centromere defects, chromosome instability, and cGAS-STING activation in systemic sclerosis

  • Souren Paul,
  • Mark H. Kaplan,
  • Dinesh Khanna,
  • Preston M. McCourt,
  • Anjan K. Saha,
  • Pei-Suen Tsou,
  • Mahek Anand,
  • Alexander Radecki,
  • Mohamad Mourad,
  • Amr H. Sawalha,
  • David M. Markovitz,
  • Rafael Contreras-Galindo

DOI
https://doi.org/10.1038/s41467-022-34775-8
Journal volume & issue
Vol. 13, no. 1
pp. 1 – 16

Abstract

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Fibrosis of the skin plays an important role in scleroderma. Here the authors demonstrate genetic and epigenetic abnormalities at the centromere that affect the replication of the chromosomes, resulting in activation of pathways involved in inflammation and fibrosis