重复相关非 AUG（RAN）翻译：病理学的见解。
Repeat-associated non-AUG (RAN) translation: insights from pathology.
机构信息
Center for NeuroGenetics, University of Florida, Gainesville, FL, 32610, USA.
Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, 32610, USA.
出版信息
Lab Invest. 2019 Jul;99(7):929-942. doi: 10.1038/s41374-019-0241-x. Epub 2019 Mar 27.
Abstract
More than 40 different neurological diseases are caused by microsatellite repeat expansions. Since the discovery of repeat-associated non-AUG (RAN) translation by Zu et al. in 2011, nine expansion disorders have been identified as RAN-positive diseases. RAN proteins are translated from different types of nucleotide repeat expansions and can be produced from both sense and antisense transcripts. In some diseases, RAN proteins have been shown to accumulate in affected brain regions. Here we review the pathological and molecular aspects associated with RAN protein accumulation for each particular disorder, the correlation between disease pathology and the available in vivo models and the common aspects shared by some of the newly discovered RAN proteins.
摘要
超过 40 种不同的神经退行性疾病是由微卫星重复扩展引起的。自 Zu 等人于 2011 年发现重复相关非 AUG（RAN）翻译以来，已有九种扩展疾病被确定为 RAN 阳性疾病。RAN 蛋白是从不同类型的核苷酸重复扩展翻译而来的，可以从有义和反义转录本中产生。在一些疾病中，RAN 蛋白已被证明在受影响的大脑区域积累。在这里，我们回顾了每种特定疾病与 RAN 蛋白积累相关的病理和分子方面，疾病病理学与现有体内模型之间的相关性，以及一些新发现的 RAN 蛋白的共同方面。
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