PDF(Pubmed)
Abstract：
Matrin-3 (MATR3) was initially discovered as a component of the nuclear matrix about thirty years ago. Since then, accumulating studies have provided evidence that MATR3 not only plays a structural role in the nucleus, but that it is also an active protein involved in regulating gene expression at multiple levels, including chromatin organization, DNA transcription, RNA metabolism, and protein translation in the nucleus and cytoplasm. Furthermore, MATR3 may play a critical role in various cellular processes, including DNA damage response, cell proliferation, differentiation, and survival. In addition to the revelation of its biological role, recent studies have reported MATR3\'s involvement in the context of various diseases, including neurodegenerative and neurodevelopmental diseases, as well as cancer. Moreover, sequencing studies of patients revealed a handful of disease-associated mutations in MATR3 linked to amyotrophic lateral sclerosis (ALS), which further elevated the gene\'s importance as a topic of study. In this review, we synthesize the current knowledge regarding the diverse functions of MATR3 in DNA- and RNA-related processes, as well as its involvement in various diseases, with a particular emphasis on ALS.
摘要：
大约30年前，Matrin-3（MATR3）最初被发现是核基质的组成部分。从那以后,越来越多的研究提供了证据，表明MATR3不仅在细胞核中起结构作用，但它也是一种参与多个水平调控基因表达的活性蛋白，包括染色质组织，DNA转录，RNA代谢，以及细胞核和细胞质中的蛋白质翻译。此外，MATR3可能在各种细胞过程中发挥关键作用，包括DNA损伤反应,细胞增殖，分化,和生存。除了其生物学作用的启示外，最近的研究报道了MATR3在各种疾病的背景下，包括神经退行性疾病和神经发育疾病，以及癌症。此外，患者的测序研究揭示了少数与肌萎缩侧索硬化症（ALS）相关的MATR3疾病相关突变，这进一步提升了该基因作为研究主题的重要性。在这次审查中,我们综合了目前有关MATR3在DNA和RNA相关过程中的多种功能的知识，以及它参与各种疾病，特别强调ALS。
