Splicing factor gene mutations in the myelodysplastic syndromes: impact on disease phenotype and therapeutic applications
A Pellagatti, J Boultwood - Advances in biological regulation, 2017 - Elsevier
Splicing factor gene mutations are the most frequent mutations found in patients with the
myeloid malignancy myelodysplastic syndrome (MDS), suggesting that spliceosomal
dysfunction plays a major role in disease pathogenesis. The aberrantly spliced target genes
and deregulated cellular pathways associated with the commonly mutated splicing factor
genes in MDS (SF3B1, SRSF2 and U2AF1) are being identified, illuminating the molecular
mechanisms underlying MDS. Emerging data from mouse modeling studies indicate that the …
myeloid malignancy myelodysplastic syndrome (MDS), suggesting that spliceosomal
dysfunction plays a major role in disease pathogenesis. The aberrantly spliced target genes
and deregulated cellular pathways associated with the commonly mutated splicing factor
genes in MDS (SF3B1, SRSF2 and U2AF1) are being identified, illuminating the molecular
mechanisms underlying MDS. Emerging data from mouse modeling studies indicate that the …