Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders.
Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders.
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DOI：
10.1016/j.gde.2014.03.002
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发表时间：
2014-06
影响因子：
4
通讯作者：
Ranum, Laura P. W.
中科院分区：
文献类型：
--
作者：
Cleary, John Douglas;Ranum, Laura P. W.
微卫星扩增疾病是一类由人类基因组内短段重复 DNA（例如 GGGGCC、CAG、CTG…）扩增引起的神经和神经肌肉疾病。自从 20 年前发现以来，人们一直在使用以下模型来检验微卫星扩展如何导致疾病：这些基因以一个方向表达，并且扩展突变仅在位于 ATG 启动的开放阅读框中时编码蛋白质。这些突变通常是双向转录的，加上最近发现的重复相关非 ATG (RAN) 翻译，这一事实为了解这些扩展突变如何表达和影响疾病提供了新的视角。现在必须考虑两个扩展转录本和一组意想不到的 RAN 蛋白对于编码和“非编码”扩展障碍。据报道，RAN 蛋白存在于越来越多的疾病中，包括脊髓小脑共济失调 8 型 (SCA8)、强直性肌营养不良 1 型 (DM1)、脆性 X 震颤共济失调综合征 (FXTAS) 和 C9ORF72 肌萎缩侧索硬化症 (ALS)/额颞叶痴呆 (FTD)。
Microsatellite-expansion diseases are a class of neurological and neuromuscular disorders caused by the expansion of short stretches of repetitive DNA (e.g. GGGGCC, CAG, CTG …) within the human genome. Since their discovery 20 years ago, research into how microsatellites expansions cause disease has been examined using the model that these genes are expressed in one direction and that expansion mutations only encode proteins when located in an ATG-initiated open reading frame. The fact that these mutations are often bidirectionally transcribed combined with the recent discovery of repeat associated non-ATG (RAN) translation provides new perspectives on how these expansion mutations are expressed and impact disease. Two expansion transcripts and a set of unexpected RAN proteins must now be considered for both coding and “non-coding” expansion disorders. RAN proteins have been reported in a growing number of diseases, including spinocerebellar ataxia type 8 (SCA8), myotonic dystrophy type 1 (DM1), Fragile-X tremor ataxia syndrome (FXTAS), and C9ORF72 amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD).
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影响因子：
3.5
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通讯作者：
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影响因子：
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