Interferon inducible X-linked gene CXorf21 may contribute to sexual dimorphism in Systemic Lupus Erythematosus

Nat Commun. 2019 May 15;10(1):2164. doi: 10.1038/s41467-019-10106-2.

Abstract

Systemic lupus erythematosus (SLE) is an autoimmune disease, characterised by increased expression of type I interferon (IFN)-regulated genes and a striking sex imbalance towards females. Through combined genetic, in silico, in vitro, and ex vivo approaches, we define CXorf21, a gene of hitherto unknown function, which escapes X-chromosome inactivation, as a candidate underlying the Xp21.2 SLE association. We demonstrate that CXorf21 is an IFN-response gene and that the sexual dimorphism in expression is magnified by immunological challenge. Fine-mapping reveals a single haplotype as a potential causal cis-eQTL for CXorf21. We propose that expression is amplified through modification of promoter and 3'-UTR chromatin interactions. Finally, we show that the CXORF21 protein colocalises with TLR7, a pathway implicated in SLE pathogenesis. Our study reveals modulation in gene expression affected by the combination of two hallmarks of SLE: CXorf21 expression increases in a both an IFN-inducible and sex-specific manner.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions / genetics
  • Adult
  • Age Factors
  • Case-Control Studies
  • Chromosomes, Human, X / genetics*
  • Female
  • Genes, X-Linked / genetics*
  • Genes, X-Linked / immunology
  • Genetic Predisposition to Disease
  • Humans
  • Interferon Type I / immunology
  • Interferon Type I / metabolism*
  • Intracellular Signaling Peptides and Proteins / genetics
  • Intracellular Signaling Peptides and Proteins / metabolism*
  • Lupus Erythematosus, Systemic / genetics*
  • Lupus Erythematosus, Systemic / immunology
  • Male
  • Promoter Regions, Genetic / genetics
  • Sex Factors
  • Toll-Like Receptor 7 / genetics

Substances

  • 3' Untranslated Regions
  • Interferon Type I
  • Intracellular Signaling Peptides and Proteins
  • TASL protein, human
  • TLR7 protein, human
  • Toll-Like Receptor 7