Kevin Eggan2014-02-27 11:48 AM

The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.小鼠C9ORF72同源基因在已知ALS和FTD退化的神经元中富集

Abstract 

Using transgenic mice harboring a targeted LacZ insertion, we studied the expression pattern of the C9ORF72 mouse ortholog (3110043O21Rik). Unlike most genes that are mutated in amyotrophic lateral sclerosis (ALS), which are ubiquitously expressed, the C9ORF72 ortholog was most highly transcribed in the neuronal populations that are sensitive to degeneration in ALS and frontotemporal dementia. Thus, our results provide a potential explanation for the cell type specificity of neuronal degeneration caused by C9ORF72 mutations.


论文摘要


通过对携带已标注LacZ嵌入物的转基因小鼠的应用,我们研究了该C9ORF72小鼠直向同源物(3110043O21Rik)的表达模式。不同于突变于肌萎缩侧索硬化症(ALS)且广泛表达的大多数基因,该C9ORF72同源基因在对肌萎缩侧索硬化症(ALS)和额颞叶痴呆退化敏感的神经元群体中的转录程度最高。因此,我们的研究结果为因C9ORF72突变导致的神经元退化的细胞类型特异性提供了可能性解释。

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Kevin Eggan

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