重复相关非 ATG（RAN）翻译。
Repeat-associated non-ATG (RAN) translation.
机构信息
From the Center for NeuroGenetics.
Departments of Molecular Genetics and Microbiology and.
出版信息
J Biol Chem. 2018 Oct 19;293(42):16127-16141. doi: 10.1074/jbc.R118.003237. Epub 2018 Sep 13.
Abstract
Microsatellite expansions cause more than 40 neurological disorders, including Huntington's disease, myotonic dystrophy, and C9ORF72 amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD). These repeat expansion mutations can produce epeat-ssociated on-ATG (RAN) proteins in all three reading frames, which accumulate in disease-relevant tissues. There has been considerable interest in RAN protein products and their downstream consequences, particularly for the dipeptide proteins found in ALS/FTD. Understanding how RAN translation occurs, what cellular factors contribute to RAN protein accumulation, and how these proteins contribute to disease should lead to a better understanding of the basic mechanisms of gene expression and human disease.
摘要
微卫星扩展导致 40 多种神经紊乱疾病，包括亨廷顿氏病、肌强直性营养不良和 C9ORF72 肌萎缩侧索硬化症/额颞叶痴呆（ALS/FTD）。这些重复扩展突变可以在所有三个阅读框中产生与重复相关的非 ATG（RAN）蛋白，这些蛋白在与疾病相关的组织中积累。RAN 蛋白产物及其下游后果引起了相当大的兴趣，特别是对于在 ALS/FTD 中发现的二肽蛋白。了解 RAN 翻译是如何发生的，哪些细胞因子有助于 RAN 蛋白的积累，以及这些蛋白如何导致疾病，应该有助于更好地理解基因表达和人类疾病的基本机制。
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