Return to Faculty List

Education

Ph.D., University of Iowa, Iowa City, IA

Research Interests

• Ribosomal biogenesis

The Ellis laboratory is investigating the molecular basis of the bone marrow failure syndrome, Diamond Blackfan anemia (DBA). DBA patients typically have a red blood cell hypoplasia, a heterogeneous collection of developmental abnormalities, and a predisposition to cancer. DBA is the first human disease linked to mutations in genes encoding ribosomal proteins. The first of these genes identified, RPS19, is mutated in approximately 25% of DBA patients. Our laboratory has shown that both yeast and human Rps19 proteins are required for the biogenesis of 40S ribosomal subunits. We have also detected a signature for Rps19 dysfunction in the bone marrow of DBA patients with mutations in RPS19. Recently we have collaborated with a group in Boston to show that a ribosomal proteins gene deleted in the 5q- subtype of myelodysplastic syndrome is responsible for the refractory anemia associated with this disease. We have also collaborated with a group at Johns Hopkins University to show that DBA can be caused by mutations in a gene encoding a large subunit ribosomal protein. These data firmly establish DBA as a ribosome-based disease and point to the exquisite sensitivity of erythropoietic progenitor cells to diminished ribosome levels. The Ellis laboratory also studies a second bone marrow failure syndrome, Shwachman Diamond syndrome, which has been linked to defects in ribosome synthesis.

Laboratory Personnel

No lab personnel at this time.

Publications

MyNCBI