MOLECULAR NETWORKS CONTROLLING RIBOSOME BIOGENESIS AND GROWTH

Protein synthesis is complex and necessary to all cells. Consistently, the construction of ribosomes, the machines for protein synthesis, takes almost half of cellular energy. In humans, mutations in the protein synthesis apparatus cause syndromes such as Diamond-Blackfan anemia or Treacher-Collins. We know very little of ribosomal networks, but we suspect they are involved in more diseases. We identified a protein p27BBP which is necessary for the production of ribosomes and growth and, at the same time, it binds beta4 integrin. Beta 4 integrin is necessary for skin maintenance and its mutations cause epidermolysis bullosa, a skin disease. A first purpose of our project is to precisely evaluate how p27BBP alterations can lead to a disease. In addition, we aim at defining molecular mechanisms of protein synthesis which are altered in inherited disease. From there we may be able in the long term to design new drugs.