Genes that escape from X-chromosome inactivation and sexual dimorphism of systemic lupus erythematosus
Received date: 2023-10-07
Revised date: 2023-12-11
Online published: 2023-12-13
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)
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
Qian Ma, Shaolan Zhou, Jie Dang, Zhenghao Huo, Zhanbing Ma . Genes that escape from X-chromosome inactivation and sexual dimorphism of systemic lupus erythematosus[J]. Hereditas(Beijing), 2024 , 46(1) : 18 -33 . DOI: 10.16288/j.yczz.23-214
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