The human RNase MRP complex : composition, assembly and role in human disease

Contains fulltext : 19147_humarnmrc.pdf (publisher's version ) (Open Access)Not all RNA molecules in human cells are being translated into proteins. Some of them function in binding proteins, thereby forming so-called RNA-protein complexes. The RNase MRP complex is an example of such an RNA-protein complex. In this thesis two new protein components of the human RNase MRP complex have been described. The binding properties of these and other proteins to the RNA component were studied as well as the mechanism of transport to the nucleolus of these protein components. Finally, the role of the RNase MRP complex in human diseases was studied. It was determined that antibodies directed to RNase MRP components present in patients suffering from systemic autoimmune diseases did not correlate to certain symptoms of these diseases, lowering in our view the relevance of this diagnostic tool. In addition, it was shown that a mutation in the RNA component of the RNase MRP complex causes a form of dwarfism called Cartilage-hair hypoplasia. This was the first time it was shown that a genetic disease can be caused by a mutation in a non-translated RNA molecule167 p