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Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss 总被引:1,自引:0,他引:1
Klein CJ Botuyan MV Wu Y Ward CJ Nicholson GA Hammans S Hojo K Yamanishi H Karpf AR Wallace DC Simon M Lander C Boardman LA Cunningham JM Smith GE Litchy WJ Boes B Atkinson EJ Middha S B Dyck PJ Parisi JE Mer G Smith DI Dyck PJ 《Nature genetics》2011,43(6):595-600
DNA methyltransferase 1 (DNMT1) is crucial for maintenance of methylation, gene regulation and chromatin stability. DNA mismatch repair, cell cycle regulation in post-mitotic neurons and neurogenesis are influenced by DNA methylation. Here we show that mutations in DNMT1 cause both central and peripheral neurodegeneration in one form of hereditary sensory and autonomic neuropathy with dementia and hearing loss. Exome sequencing led to the identification of DNMT1 mutation c.1484A>G (p.Tyr495Cys) in two American kindreds and one Japanese kindred and a triple nucleotide change, c.1470-1472TCC>ATA (p.Asp490Glu-Pro491Tyr), in one European kindred. All mutations are within the targeting-sequence domain of DNMT1. These mutations cause premature degradation of mutant proteins, reduced methyltransferase activity and impaired heterochromatin binding during the G2 cell cycle phase leading to global hypomethylation and site-specific hypermethylation. Our study shows that DNMT1 mutations cause the aberrant methylation implicated in complex pathogenesis. The discovered DNMT1 mutations provide a new framework for the study of neurodegenerative diseases. 相似文献
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本通过对几种拆分手性药物的方法的列举,比较几种方法,详细介绍了几种方法的特点,以及它们的不同作用。各个方法中又列出了不同的线索,根据这些线索来研究这几种拆分的方法,它们的优缺点以及针对这些缺点的解决方法,最后给出了几个典型的用该方法的实验,以辨别它们的效用。 相似文献
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针对多年来农业院校传统的普通化学实验课教学,进行了教学模式、教学内容、考核方式和实验管理体系等全方位的改革探索和实践.结果表明,经过实验教学改革与实践使学生的实验基本技能、综合素质能力和实验水平有了很大的提高,取得了满意的教学效果. 相似文献
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