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Scholars Day: April 15, 2009

The Role of Non-homologous End Joining in Mitochondrial Genome Stability and Repair

Mitochondria are the site of respiration in the eukaryotic cell and are essential for viability. Instability within the mitochondrial genome can result in the loss of respiration, and is thought to contribute to a number of diseases such as diabetes mellitus, certain cancers, neuromuscular diseases, and age-related diseases. The mitochondrial genome encodes proteins that are involved in oxidative phosphorylation and ATP production. Work in the lab centers on identifying genes in the non-homologous end joining (NHEJ) pathway involved in mitochondrial genome stability in the budding yeast, Saccharomyces cerevisiae. The NHEJ DNA repair pathway consists of 5 proteins, acting in 2 complexes allowing for the processing and repair of double strand DNA breaks. The NHEJ DNA repair pathway is the most prevalent DNA repair pathway in higher eukaryotes. Our lab has developed a series of genetic assays to determine the role of NHEJ in mitochondrial genome stability. In the absence of the NHEJ DNA repair pathway, our data suggests that the frequency of spontaneous respiration loss increases. The lab has also determined the effects of the loss of the NHEJ DNA repair pathway has on direct repeat-mediated deletion events and the occurrence of spontaneous point mutations within the mitochondrial genome.

Presenter: Garry Coles (Graduate Student)
Topic: Biological Sciences
Location: 101 Edwards
Time: 9:20 am (Session I)