Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly.

@article{Welting2008CartilagehairHM,
  title={Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly.},
  author={Tim Welting and Sandy Mattijssen and Florence M A Peters and Nienke L van Doorn and Lianne Dekkers and Walther J. van Venrooij and Hans A. Heus and Luisa Bonafė and Ger J. M. Pruijn},
  journal={Biochimica et biophysica acta},
  year={2008},
  volume={1783 3},
  pages={455-66}
}
Cartilage-hair hypoplasia (CHH) is caused by mutations in the gene encoding the RNA component of RNase MRP. Currently it is unknown how these mutations affect the function of this endoribonuclease. In this study we investigated the effect of mutations in the P3 domain on protein binding and RNA folding. Our data demonstrate that a number of P3 nucleotide… CONTINUE READING