Mutant ATRX: pathogenesis of ATRX syndrome and cancer

被引：0

作者：

Yuan, Kejia ^{[1
]}

Tang, Yan ^{[1
]}

Ding, Zexian ^{[1
]}

Peng, Lei ^{[1
]}

Zeng, Jinghua ^{[1
]}

Wu, Huaying ^{[1
]}

Yi, Qi ^{[1
]}

机构：

[1] Hunan Normal Univ, Key Lab Model Anim & Stem Cell Biol, Sch Med, Changsha, Hunan, Peoples R China

来源：

FRONTIERS IN MOLECULAR BIOSCIENCES | 2024年 / 11卷

基金：

中国国家自然科学基金;

关键词：

ATRX; ATRX syndrome; replication stress; ALT; transcriptional regulation; tumorigenesis; TERT PROMOTER MUTATIONS; REMODELING FACTOR ATRX; MENTAL-RETARDATION; X SYNDROME; ALPHA-THALASSEMIA; ADD DOMAIN; CHROMOSOME INSTABILITY; BINDING PROTEIN; HISTONE H3.3; GENE-PRODUCT;

D O I：

10.3389/fmolb.2024.1434398

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页数：16

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