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REVIEW article

Front. Mol. Biosci.
Sec. Genome Organization and Dynamics
Volume 11 - 2024 | doi: 10.3389/fmolb.2024.1434398

Mutant ATRX: Pathogenesis of ATRX Syndrome and Cancer

Provisionally accepted
Kejia Yuan Kejia Yuan *Yan Tang Yan Tang *Zexian Ding Zexian Ding *Lei Peng Lei Peng Jinghua Zeng Jinghua Zeng *Huaying Wu Huaying Wu *Qi Yi Qi Yi *
  • Hunan Normal University School of Medicine, Hunan Normal University, Changsha, China

The final, formatted version of the article will be published soon.

    The transcriptional regulator ATRX, a genetic factor, is associated with a range of disabilities, including intellectual, hematopoietic, skeletal, facial, and urogenital disabilities. ATRX mutations substantially contribute to the pathogenesis of ATRX syndrome and are frequently detected in gliomas and many other cancers. These mutations disrupt the organization, subcellular localization, and transcriptional activity of ATRX, leading to chromosomal instability and affecting interactions with key regulatory proteins such as DAXX, EZH2, and TERRA. ATRX also functions as a transcriptional regulator involved in the pathogenesis of neuronal disorders and various diseases. In conclusion, ATRX is a central protein whose abnormalities lead to multiple diseases.

    Keywords: ATRX, ATRX syndrome, replication stress, ALT, Transcriptional regulation, tumorigenesis

    Received: 21 May 2024; Accepted: 04 Oct 2024.

    Copyright: © 2024 Yuan, Tang, Ding, Peng, Zeng, Wu and Yi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Kejia Yuan, Hunan Normal University School of Medicine, Hunan Normal University, Changsha, China
    Yan Tang, Hunan Normal University School of Medicine, Hunan Normal University, Changsha, China
    Zexian Ding, Hunan Normal University School of Medicine, Hunan Normal University, Changsha, China
    Jinghua Zeng, Hunan Normal University School of Medicine, Hunan Normal University, Changsha, China
    Huaying Wu, Hunan Normal University School of Medicine, Hunan Normal University, Changsha, China
    Qi Yi, Hunan Normal University School of Medicine, Hunan Normal University, Changsha, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.