Defective control of pre–messenger RNA splicing in human disease

B Chabot, L Shkreta - Journal of Cell Biology, 2016 - rupress.org
Journal of Cell Biology, 2016rupress.org
Examples of associations between human disease and defects in pre–messenger RNA
splicing/alternative splicing are accumulating. Although many alterations are caused by
mutations in splicing signals or regulatory sequence elements, recent studies have noted
the disruptive impact of mutated generic spliceosome components and splicing regulatory
proteins. This review highlights recent progress in our understanding of how the altered
splicing function of RNA-binding proteins contributes to myelodysplastic syndromes, cancer …
Examples of associations between human disease and defects in pre–messenger RNA splicing/alternative splicing are accumulating. Although many alterations are caused by mutations in splicing signals or regulatory sequence elements, recent studies have noted the disruptive impact of mutated generic spliceosome components and splicing regulatory proteins. This review highlights recent progress in our understanding of how the altered splicing function of RNA-binding proteins contributes to myelodysplastic syndromes, cancer, and neuropathologies.
rupress.org