| GeneLibs

题目:: Chromosome fragility at the expanded GAA/TTC tracks depends on repeat orientation and requires mismatch repair system
ID:
状态:: 发布时间May 14, 2008 , 更新时间 May 2, 2014
物种:: Saccharomyces cerevisiae
摘要:: Expansion of triplex-forming GAA/TTC repeats in the first intron of FRDA gene is known to cause Friedreich’s ataxia. Besides FRDA, there are a number of other highly polymorphic GAA/TTC loci in the human genome where the size variations so far were considered to be a neutral event. Using yeast as a model system, we demonstrate that expanded GAA/TTC repeats represent a threat to eukaryotic genome integrity by triggering double-strand breaks and gross chromosomal rearrangements. The fragility potential strongly depends on the length of the track and orientation of the repeats relative to the replication origin which correlates with their propensity to adopt secondary structure and to block replication progression. We show that fragility is mediated by mismatch repair machinery and requires the MutS(beta) and endonuclease activity of MutL(alpha). We suggest that the mechanism of GAA/TTC-induced chromosome aberrations defined in yeast can also operate in human carriers with expanded tracks. Keywords: CGH-array Genomic DNA from each of 15 strains was competitively hybridized to DNA from the parent diploid strain (Cy3/green). Gains of genomic segments in the survivors were detected as continuous regions of positive Log2 Red:Green ratios, while losses were detected as negative Log2 Red:Green ratios.
实验种类:: unknown experiment type
样本量:: 30
实验设计:
: 无设计数据
数据号:: E-GEOD-11425, GSE11425
数据状态:: 无法自动分析，您可以尝试手动分析数据。

实验库数据相关信息

DataTable pData

联系方式

微信公众号

实验库 数据相关信息

DataTable pData

联系方式

微信公众号

实验库数据相关信息