Xist in X chromosome inactivation: mechanisms and disease relevance

X-inactive specific transcript (Xist) is a main regulator of X chromosome inactivation in mammals, which silences most genes on X chromosome in a cis way. Xist is a kind of lncRNA, which cannot encode the transcript of protein. In addition, Xist RNA mediates the X chromosome inactivation (XCI) process to achieve dose compensation between the sexes. Recent studies have identified that Xist RNA regulates gene expression by recruiting factors/complexes to modify potential chromatin, which were involved in diseases such as neuroinflammation, autoimmune diseases and cancers. In this paper, the research progress of Xist RNA causing a series of diseases in mammalian cells is reviewed, which makes it a potential target for treating human diseases and provides a new direction for further study of diseases.