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首页> 外文学位 >Repair of slipped (CAG)·(CTG) structures by undifferentiated and differentiated human neuron-like cells.
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Repair of slipped (CAG)·(CTG) structures by undifferentiated and differentiated human neuron-like cells.

机译：未分化和分化的人类神经元样细胞修复滑动的（CAG）·（CTG）结构。

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摘要

Instability of trinucleotide repeat sequences such as (CAG)•(CTG) have been linked to more than 14 human disorders, including Huntington disease and myotonic dystrophy. Repeat instability is thought to arise through the escaped/failed or aberrant repair of slipped DNA repeat structures. Since many trinucleotide repeat disorders display a neurological phenotype, we sought to investigate whether slipped CAG and CTG repeat structures could be repaired by cell extracts of the human neuroblastoma cell line, SH-SY5Y. Extracts of undifferentiated and differentiated SH-SY5Y cells were able to repair slipped CAG and CTG repeat structures in a nick-directed fashion, with no quantitative or qualitative differences in repair efficiencies between undifferentiated and differentiated SH-SY5Y extracts. However, repair efficiency was influenced by nick polarity as structures with 5' nicks displayed higher repair efficiencies than those with 3' nicks. Such repair influences may help to explain the different mutation patterns seen at various genetic loci and tissues.
机译：（CAG）•（CTG）等三核苷酸重复序列的不稳定性与亨廷顿病和强直性营养不良等14多种人类疾病有关。重复不稳定性被认为是通过滑动的DNA重复结构的逃逸/失败或异常修复引起的。由于许多三核苷酸重复序列疾病表现出神经表型，我们试图研究是否可以通过人成神经细胞瘤细胞系SH-SY5Y的细胞提取物修复滑动的CAG和CTG重复序列结构。未分化和分化的SH-SY5Y细胞提取物能够以切口导向的方式修复滑动的CAG和CTG重复结构，未分化和分化的SH-SY5Y提取物之间的修复效率没有定量或质量上的差异。然而，修复效率受切口极性的影响，因为具有5'切口的结构显示出比具有3'切口的结构更高的修复效率。这种修复的影响可能有助于解释在各种遗传基因座和组织上看到的不同突变模式。

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  • 作者

    Blondin, Michelle.;

  • 作者单位

    University of Toronto (Canada).;

  • 授予单位 University of Toronto (Canada).;
  • 学科 Biology Molecular.
  • 学位 M.Sc.
  • 年度 2005
  • 页码 85 p.
  • 总页数 85
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 分子遗传学;
  • 关键词

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