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Department of Biochemistry and Molecular Biology

Professor

Email Dr. Ellis
Phone Number: 502-852-5222
Fax: 502-852-6222
Address: 319 Abraham Flexner Way, Room 507
Louisville, KY 40202
PhD, University of Iowa

Area of Interest:

Ribosomal biogenesis

Laboratory Personnel:

Logsdon, Paula
Moore, Joseph


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.

Selected Publications:

Léger-Silvestre, I., Caffrey, J. M., Dawaliby, R., Arias-Alvares, D., Gas, N., Bertolone, S.J., Gleizes, P.E. and Ellis S.R. (2005) Specific Role for yeast homologs Diamond Blackfan Anemia Rps19 protein in ribosome synthesis. J. Biol. Chem. 280,38177-38185

Ellis, S.R., and Massey, A.T. (2006) Diamond Blackfan Anemia: A paradigm for a ribosome-based disease. Med. Hypotheses 66, 643-648

Flygare, J., Aspesi, A. Bailey, J.C., Miyake, K. Caffrey, J.M., Karlsson, S., and Ellis, S.R. (2006) Human RPS19 the gene mutated in Diamond Blackfan Anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood 109, 980-986

Liu, J.M. and Ellis, S.R. (2006) Ribosomes and marrow failure: coincidental association or molecular paradigm. Blood 107,4583-4588

Ebert, B.L., Pretz, J., Bosco, J., Chang, C.Y., Tamayo, P., Galili, N., Raza, A., Root, D.E., Attar, E., Ellis, S.R., and Golub, T.R. (2008) Identification of RPS14 as a 5q- syndrome gene by RNA interference. Nature 451, 335-339

Ellis, S.R. and Lipton, J.M. (2008) Diamond Blackfan Anemia: A Disorder of Red Cell Development. Curr. Top. Cell. Biol. 82, 217-241