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

Published version
Peer-reviewed

Type

Article

Change log

Authors

Odhams, Christopher A 
Roberts, Amy L 
Duarte, Carolina ST 

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.

Description

Keywords

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

Journal Title

Nat Commun

Conference Name

Journal ISSN

2041-1723
2041-1723

Volume Title

10

Publisher

Springer Science and Business Media LLC