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在富含G重复的ATRX损失伴侣基因组不稳定性到人类α-环球蛋白表达失调

Yuqi Shen^1,2, Kinam Gupta³, Sue Mei Tan-Wong⁴

¹Chinese Academy of Medical Sciences Oxford Institute (COI), Nuffield Department of Medicine, University of Oxford, Oxford, UK.

Nature communications

|February 13, 2026

概括

失去ATRX蛋白质会破坏α-globin基因表达,通过增加G丰富重复的DNA损伤,影响基因组稳定性并导致遗传疾病.

科学领域:

分子生物学分子生物学
遗传学是一个遗传学.
表观遗传学在表观遗传学中,表观遗传学是指表观遗传学.

背景情况:

在ATR-X综合征 (ATRX) 蛋白中的生殖基因突变会导致严重的发育障碍,并且在癌症中很常见.
通过ATRX突变影响基因表达的精确机制尚未完全理解.

研究的目的:

为了研究ATRX突变如何改变基因表达,使用α-globin位点作为模型系统.
阐明将ATRX与基因组稳定性和转录调节联系起来的分子机制.

主要方法:

利用α-环球因子来研究ATRX缺乏对基因表达的影响.
研究了G丰富的重复在ATRX介导的转录调节和DNA损伤中的作用.
在ATRX的存在和缺席下检查了R-循环积累和DNA损伤.

主要成果:

在DNA受损的细胞中,ATRX缺乏下调α-环球蛋白.
在α-环球位点的G丰富的重复是G-四重复形成和DNA损伤的地点.
ATRX将这种重复结合到共同转录;它的损失增加了R循环积累,导致DNA损伤和破坏转录.
删除重复会阻止这种效应,而针对性DNA损伤可以重新引入它.

结论:

在保持基因组稳定性方面,ATRX通过调节G丰富重复的转录来发挥关键作用.
失去ATRX会导致R循环积累和DNA损伤,破坏基因表达.
这种机制为ATR-X综合征和ATRX在癌症中的作用提供了洞察力.

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