Melis Atalar Aksit

Abstract Genetic modifiers of age of onset in Huntington′s disease (HD) provide compelling evidence that somatic expansion of the CAG repeats is a critical driver of pathogenesis and demonstrate that repeat instability is modulated by DNA mismatch repair (MMR). A component of this pathway, MutSβ, a heterodimer comprised of MSH2 and MSH3, has emerged as a potential target for small-molecule therapeutic intervention.

New Results Joseph M. Collaco, Karen S. Raraigh, Joshua Betz, Melis Atalar Aksit, Nenad Blau, Jordan Brown, Harry C. Dietz, Gretchen MacCarrick, Lawrence M. Nogee, Molly B. Sheridan, Hilary J. Vernon, Terri H. Beaty, Thomas A. Louis, Garry R. Cutting doi: https://doi.org/10.1101/2021.04.19.440463 ABSTRACT Purpose The growing size of public variant repositories prompted us to test the accuracy of predicting pathogenicity of DNA variants using population data alone.