Characterizing Human-Disease Mutations in the Essential RNA Exosome with Budding Yeast

Investigator: Maria Sterrett, Ph.D., Bowdoin College

RNA molecules encode proteins and regulate other essential molecules in our cells. The RNA content of a cell is regulated in part by evolutionarily conserved RNA decay machines such as the RNA exosome. Recent clinical reports identify mutations in genes encoding subunits of the RNA exosome complex that cause human disease, with distinct clinical manifestations. My research employs a genetic model system to assess how the mutations identified in patients alter the function of the essential RNA exosome complex, which will provide insight into the distinct symptoms seen in patients.

Sterrett Lab at Bowdoin College

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