[RNA helicases and hematopoietic neoplasms: insights into RNA processing and disease pathogenesis]

RNA helicases comprise a large family of enzymes that act on RNA or RNA-protein complexes to remodel their structures. More than 70 RNA helicases have been identified in humans, and they are involved in nearly all cellular processes that require dynamic RNA structural rearrangements. A subset of myeloid neoplasms is associated with germline predisposition, among which DDX41, a representative member of the DEAD-box RNA helicase family, is one of the most important causative genes. Although one of the major cellular functions of DDX41 is thought to be pre-mRNA splicing, it is unlikely to directly determine splice site selection. Rather, recent studies suggest that DDX41 plays an integrative regulatory role in transcription and RNA splicing by preventing the accumulation of specific nucleic acid structures known as R-loops. This review summarizes the physiological roles of RNA helicases, including DDX41, and discusses their relevance to human disease, with a particular focus on hematopoietic neoplasms.