...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17
【24h】

Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17

机译：Tau外显子10剪接调控元件RNA的结构和额颞叶痴呆突变和帕金森病与染色体17相关的不稳定作用

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Coding region and intronic mutations in the tau gene cause frontotemporal dementia and parkinsonism linked to chromosome 17. Intronic mutations and some missense mutations increase splicing in of exon 10, leading to an increased ratio of four-repeat to three-repeat tau isoforms. Secondary structure predictions have led to the proposal that intronic mutations and one missense mutation destabilize a putative RNA stem-loop structure located close to the splicedonor site of the intron after exon 10. We have determined the three-dimensional structure of this tau exon 10 splicing regulatory element RNA by NMR spectroscopy. We show that in forms a stable, folded stem-loop structure whose thermodynamic stability is reduced by frontotemporal dementia and parkinsonism linked to chromosome 17 mutations and increased by compensatory mutations. By exon trapping, the reduction in thermodynamic stability is correlated with increased splicing in of exon 10.
机译：tau基因的编码区和内含子突变导致额颞叶痴呆和帕金森氏症与17号染色​​体有关。内含子突变和某些错义突变增加了外显子10的剪接，导致四重复与三重复tau亚型的比率增加。通过二级结构预测，提出了一个建议，即内含子突变和一个错义突变会使位于外显子10后内含子剪接子位点附近的推定RNA茎环结构不稳定。我们已经确定了该tau外显子10剪接的三维结构NMR光谱分析调控元素的RNA。我们显示，在形式上稳定的，折叠的茎环结构，其热力学稳定性因额颞痴呆和帕金森症而降低，与染色体17突变相关，而代偿性突变使热力学稳定性降低。通过外显子捕获，热力学稳定性的降低与外显子10的剪接增加有关。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号