Ribosomal RNA modifications as determinants of cell identity and function

RNA modifications are emerging as key determinants of development and disease. The ribosome is of the most heavily modified complex in the cell harboring more than 220 modified nucleotides on its ribosomal RNAs (rRNAs). While these modifications were identified in the 1950`s it is yet not fully clear what role do they play in translation regulation and in human disease.

We have previously demonstrated that aberrant 2’-O-methylation (2’OMe), the most common rRNA modification, underlines bone marrow failure in human patients. We found that aberrant 2’OMe leads to altered translation and dysfunction of hematopoietic stem cells.

Currently we explore the role of rRNA modifications in hematopoietic differentiation, regulation of immune function and during viral infection. Taken together our studies reveal a central role for rRNA modifications in normal hematopoiesis, cellular function and human disease.