by Omar Abdel-Wahab Memorial Sloan Kettering Cancer Center. New York, US
Host: Juan Valcarcel | CRG
Mutations in the spliceosomal genes SRSF2, U2AF1 and SF3B1 are commonly found in patients with leukemia and are among the most common class of genetic alterations in myelodysplastic syndromes (MDS) and chronic lymphocytic leukemia (CLL). These mutations occur at highly restricted amino acid residues, are always heterozygous, and never co-occur with one another. To date, work from our group and others has identified that these mutations alter RNA binding and splicing preferences in a sequence-specific manner, distinct from loss-of-function. Moreover, recent data from our group has identified novel, unannotated mRNA isoforms generated by these mutations which appear to be required for disease development and/or maintenance. These results will be presented in this talk in addition to functional impact of altered RNA splicing on immune response and the immunoproteome.