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Nearly 30 genetic diseases are caused by the repetition of a short sequence of 2-9 base pairs, known as microsatellites. These microsatellite repeats occur in humans normally; however disease symptoms become apparent once a certain repeat threshold is reached. Usually, these diseases follow a phenomenon known as genetic anticipation, in which each subsequent generation experiences increased disease ... read moreseverity and earlier onset, which was found to correlate with microsatellite repeat length. To study these expansions, budding yeast (S. cerevisiae) strains were used in genetic experiments to determine a protein’s effect on CAG repeat expansion. Preliminary data suggest that Rmi1 is required for expansions to occur, Los1 protects against expansions, and Gpb1 does not have a role in expansion Submitted in partial fulfillment of the grant requirement of the Tufts Summer Scholars Program.read less
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