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Cancer Lett. 2017 Nov 28;409:1-8. doi: 10.1016/j.canlet.2017.08.042. Epub 2017 Sep 6.

Mutations of RNA splicing factors in hematological malignancies.

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Department of Biological, Geo and Evs Sciences, Center for Gene Regulation in Health and Disease, Cleveland State Univesity, Cleveland, OH 44115, USA. Electronic address:
Department of Cellular and Molecular Medicine, Lerner Research Institute Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH, USA.


Systematic large-scale cancer genomic studies have produced numerous significant findings. These studies have not only revealed new cancer-promoting genes, but they also have identified cancer-promoting functions of previously known "housekeeping" genes. These studies have identified numerous mutations in genes which play a fundamental role in nuclear precursor mRNA splicing. Somatic mutations and copy number variation in many of the splicing factors which participate in the formation of multiple spliceosomal complexes appear to play a role in many cancers and in particular in myelodysplastic syndromes (MDS). Mutated proteins seem to interfere with the recognition of the authentic splice sites (SS) leading to utilization of suboptimal alternative splicing sites generating aberrantly spliced mRNA isoforms. This short review is focusing on the function of the splice factors involved in the formation of splicing complexes and potential mechanisms which affect usage of the authentic splice site recognition.


Hematological malignancies; RNA splicing; Splicing mutations; U12-dependent introns

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