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Hereditas(Beijing) ›› 2024, Vol. 46 ›› Issue (1): 18-33.doi: 10.16288/j.yczz.23-214

• Review • Previous Articles     Next Articles

Genes that escape from X-chromosome inactivation and sexual dimorphism of systemic lupus erythematosus

Qian Ma1,2(), Shaolan Zhou3(), Jie Dang2,4, Zhenghao Huo2,4(), Zhanbing Ma2,4()   

  1. 1. School of Life Sciences, Ningxia University, Yinchuan 750021, China
    2. Department of Medical Genetics and Cell Biology, College of Basic Medical Sciences, Ningxia Medical University, Yinchuan 750004, China
    3. Department of Rheumatology, General Hospital of Ningxia Medical University, Yinchuan 750003, China
    4. Key Laboratory of Fertility Preservation and Maintenance (Ningxia Medical University), Ministry of Education, Yinchuan 750004, China
  • Received:2023-10-07 Revised:2023-12-11 Online:2024-01-20 Published:2023-12-13
  • Contact: Zhenghao Huo,Zhanbing Ma E-mail:maqian226@126.com;64758961@qq.com;huozhh@163.com;1784947489@qq.com
  • Supported by:
    National Natural Science Foundation of China(82060301);National Natural Science Foundation of China(81960306);Natural Science Foundation of the Ningxia(22KJB180014);Natural Science Foundation of the Ningxia(2020AAC03116)

Abstract:

X chromosome inactivation can balance the effects of the two X chromosomes in females, and emerging evidence indicates that numerous genes on the inactivated X chromosome have the potential to evade inactivation. The mechanisms of escape include modification of DNA, RNA, histone, epitope, and various regulatory proteins, as well as the spatial structure of chromatin. The study of X chromosome inactivation escape has paved the way for investigating sex dimorphism in human diseases, particularly autoimmune diseases. It has been demonstrated that the presence of TLR7, CD40L, IRAK-1, CXCR3, and CXorf21 significantly contributes to the prevalence of SLE (systemic lupus erythematosus) in females. This article mainly reviews the molecular mechanisms underlying these genes that escape from X-chromosome inactivation and sexual dimorphism of systemic lupus erythematosus. Therefore, elucidating the molecular mechanisms underlying sexual dimorphism in SLE is not only crucial for diagnosing and treating the disease, but also holds theoretical significance in comprehensively understanding the development and regulatory mechanisms of the human immune system.

Key words: inactive X chromosome, gene, escape, sexual dimorphism, systemic lupus erythematosus