Alejandro Ibáñez-Costa: Maimonides Biomedical Research Institute of Córdoba; Department of Cell Biology, Physiology, and Immunology, University of Córdoba; Hospital Universitario Reina Sofía, Córdoba, Spain
BMC Medical Genomics called for submissions to our collection on "Spliceosome mutations in human disease". Splicing is a crucial process to transform precursor mRNAs to their active form. The spliceosome is a very large ribonucleoprotein facilitating this process. The spliceosome is a complex structure which conformation and composition are highly dynamic. As altered splicing has been shown to cause a variety of diseases in a variety of tissues, elucidating functions and issues with this ribonucleoprotein complex forms the foundation for understanding the conditions presented in the clinic.