Epigenetic regulation of DUX4: From embryogenesis to muscular degeneration

IF 4.3 2区生物学 Q1 CELL BIOLOGY

Current Opinion in Cell Biology Pub Date : 2025-08-19 DOI:10.1016/j.ceb.2025.102579

Leyi Li , Arnab Ray , Shifeng Xue

引用次数: 0

Abstract

DUX4 is a transcription factor with a critical role in zygotic genome activation. It is expressed briefly in early embryogenesis and shut off for the rest of life. Inappropriate reactivation of DUX4 in adult muscle cells causes facioscapulohumeral dystrophy (FSHD), a muscular dystrophy affecting up to 1 in 8000, currently with no cure. In healthy adults, DUX4 is kept repressed through a variety of epigenetic mechanisms. Here, we explore the regulation of DUX4 in both embryogenesis and adulthood to identify similarities and differences. Comparative insights into DUX4 regulation can also be gained by studying its mouse homologue, Dux, which plays a similar role in early embryogenesis. Despite being in different genomic environments, Dux and DUX4 share similar regulatory mechanisms. We propose that the mechanisms regulating Dux and DUX4 in embryogenesis could inspire novel therapeutic angles for FSHD.

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DUX4的表观遗传调控：从胚胎发生到肌肉变性

DUX4是一种在合子基因组激活中起关键作用的转录因子。它在胚胎早期短暂地表达，并在生命的其余部分关闭。成人肌肉细胞中DUX4的不适当再激活会导致面肩肱骨营养不良（FSHD），这是一种影响高达1 / 8000的肌肉营养不良，目前尚无治愈方法。在健康成人中，DUX4通过多种表观遗传机制被抑制。在这里，我们探讨了DUX4在胚胎发生和成年期的调控，以确定异同。通过研究DUX4的小鼠同源物Dux也可以获得对DUX4调控的比较见解，Dux在早期胚胎发生中起着类似的作用。尽管处于不同的基因组环境，Dux和DUX4具有相似的调控机制。我们认为Dux和DUX4在胚胎发生中的调控机制可能为FSHD的治疗提供新的视角。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current Opinion in Cell Biology 生物-细胞生物学

CiteScore

14.60

自引率

1.30%

发文量

审稿时长

93 days

期刊介绍： Current Opinion in Cell Biology (COCEBI) is a highly respected journal that specializes in publishing authoritative, comprehensive, and systematic reviews in the field of cell biology. The journal's primary aim is to provide a clear and readable synthesis of the latest advances in cell biology, helping specialists stay current with the rapidly evolving field. Expert authors contribute to the journal by annotating and highlighting the most significant papers from the extensive body of research published annually, offering valuable insights and saving time for readers by distilling key findings. COCEBI is part of the Current Opinion and Research (CO+RE) suite of journals, which leverages the legacy of editorial excellence, high impact, and global reach to ensure that the journal is a widely read resource integral to scientists' workflow. It is published by Elsevier, a publisher known for its commitment to excellence in scientific publishing and the communication of reproducible biomedical research aimed at improving human health. The journal's content is designed to be an invaluable resource for a diverse audience, including researchers, lecturers, teachers, professionals, policymakers, and students.