A model system to study contractions of the (GAA)n repeats in yeast Saccharomyces cerevisiae
Shimberg, William Reed
2012
- DNA naturally contains many repetitive sequences some of which are dinucleotide, trinucleotide, pentanucleotide and dodecanucleotide repeats. Some repetitive sequences can form unusual structures in the DNA, which can interfere with replication, transcription, and repair processes and cause instability of the DNA. This instability can be detected as expansions or contractions in the length of the ... read moreoriginal repeats. Many human diseases are caused by the expansion of repetitive DNA. Expansion of a GAA repeat in the first intron of the frataxin (FXN) gene in humans is one such example. When the GAA run expands beyond a length threshold of approximately 70 repeats, FXN gene expression is affected, ultimately resulting in Freidreich_�_s ataxia. While extensive research is being carried out on the molecular mechanisms of GAA repeat expansions, relatively few studies focus on their contractions. However, understanding contraction processes is important, as it might help revert the expanded FXN gene in diseased individuals and alleviate their symptoms. To understand mechanisms of contractions of GAA repeats, we were interested in identifying genes involved in the contraction process. Due to difficulties of running a genetic screen in human cells, we modeled GAA repeat contractions in a yeast system. This system was used to conduct a genetic screen to identify genes involved in the contraction process. In total, we identified 16 genes, some of which appear to affect the frequency of contractions.read less
- ID:
- 7w62fm29v
- Component ID:
- tufts:UA005.010.069.00001
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