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突变型ATRX：ATRX综合征与癌症的发病机制

Mutant ATRX: pathogenesis of ATRX syndrome and cancer.

作者信息

Yuan Kejia, Tang Yan, Ding Zexian, Peng Lei, Zeng Jinghua, Wu Huaying, Yi Qi

机构信息

Key Laboratory of Model Animals and Stem Cell Biology, Hunan Normal University School of Medicine, Changsha, Hunan, China.

出版信息

Front Mol Biosci. 2024 Oct 16;11:1434398. doi: 10.3389/fmolb.2024.1434398. eCollection 2024.

DOI:10.3389/fmolb.2024.1434398
PMID:39479502
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11521912/
Abstract

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.

摘要

转录调节因子ATRX是一种遗传因子，与一系列残疾相关，包括智力、造血、骨骼、面部和泌尿生殖系统残疾。ATRX突变在很大程度上促成了ATRX综合征的发病机制，并且在胶质瘤和许多其他癌症中经常被检测到。这些突变破坏了ATRX的结构、亚细胞定位和转录活性，导致染色体不稳定，并影响与DAXX、EZH2和TERRA等关键调节蛋白的相互作用。ATRX还作为一种转录调节因子参与神经元疾病和各种疾病的发病机制。总之，ATRX是一种核心蛋白，其异常会导致多种疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/841a/11521912/f1832e523b0e/fmolb-11-1434398-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/841a/11521912/782e7743d641/fmolb-11-1434398-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/841a/11521912/839468fb8fc1/fmolb-11-1434398-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/841a/11521912/afe42bf41568/fmolb-11-1434398-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/841a/11521912/f1832e523b0e/fmolb-11-1434398-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/841a/11521912/782e7743d641/fmolb-11-1434398-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/841a/11521912/839468fb8fc1/fmolb-11-1434398-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/841a/11521912/afe42bf41568/fmolb-11-1434398-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/841a/11521912/f1832e523b0e/fmolb-11-1434398-g004.jpg

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PLoS One. 2025 May 29;20(5):e0313380. doi: 10.1371/journal.pone.0313380. eCollection 2025.
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Novel variants of the ATRX gene identified in MYCN non-amplified Neuroblastoma in Brazilian patients.在巴西患者的MYCN未扩增神经母细胞瘤中鉴定出的ATRX基因新变体。
Clinics (Sao Paulo). 2025 Apr 25;80:100652. doi: 10.1016/j.clinsp.2025.100652. eCollection 2025.

本文引用的文献

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Prognostic Value of ATRX and p53 Status in High-Grade Glioma Patients in Morocco.ATRX和p53状态在摩洛哥高级别胶质瘤患者中的预后价值
Cureus. 2024 Mar 18;16(3):e56361. doi: 10.7759/cureus.56361. eCollection 2024 Mar.
2
Combined deletion of MEN1, ATRX and PTEN triggers development of high-grade pancreatic neuroendocrine tumors in mice.联合缺失 MEN1、ATRX 和 PTEN 可导致小鼠发生高级别胰腺神经内分泌肿瘤。
Sci Rep. 2024 Apr 12;14(1):8510. doi: 10.1038/s41598-024-58874-2.
3
Interplay between ATRX and IDH1 mutations governs innate immune responses in diffuse gliomas.
ATRX与IDH1突变之间的相互作用调控弥漫性胶质瘤中的固有免疫反应。
Nat Commun. 2024 Jan 25;15(1):730. doi: 10.1038/s41467-024-44932-w.
4
Genomic instability and eye diseases.基因组不稳定与眼部疾病
Adv Ophthalmol Pract Res. 2023 Apr 5;3(3):103-111. doi: 10.1016/j.aopr.2023.03.002. eCollection 2023 Aug-Sep.
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Sirtuin 2 inhibition modulates chromatin landscapes genome-wide to induce senescence in ATRX-deficient malignant glioma.Sirtuin 2 抑制作用调节全基因组染色质景观，诱导 ATRX 缺陷型恶性脑胶质瘤衰老。
Neuro Oncol. 2024 Jan 5;26(1):55-67. doi: 10.1093/neuonc/noad155.
6
The Chromatin Remodeler ATRX: Role and Mechanism in Biology and Cancer.染色质重塑因子ATRX：在生物学和癌症中的作用及机制
Cancers (Basel). 2023 Apr 10;15(8):2228. doi: 10.3390/cancers15082228.
7
ATRX/DAXX: Guarding the Genome against the Hazards of ALT.ATR/DAXX：保护基因组免受 ALT 危害。
Genes (Basel). 2023 Mar 24;14(4):790. doi: 10.3390/genes14040790.
8
ATRX, a guardian of chromatin.ATRX，一种染色质守护者。
Trends Genet. 2023 Jun;39(6):505-519. doi: 10.1016/j.tig.2023.02.009. Epub 2023 Mar 7.
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A new path to alternative lengthening of telomeres?端粒替代延长的新途径？
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Reprint of: The Diagnostic and Prognostic Utility of Incorporating DAXX, ATRX, and Alternative Lengthening of Telomeres (ALT) to the Evaluation of Pancreatic Neuroendocrine Tumors (PanNETs).原文重现：将 DAXX、ATRX 和端粒的替代性延长（ALT）纳入胰腺神经内分泌肿瘤（PanNETs）评估中的诊断和预后效用。
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