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Splicing, genome stability and disease: splice like your genome depends on it!

Posted July 17, 2019 | Publications

Tam AS & Stirling PC. Splicing, genome stability and disease: splice like your genome depends on it!  Curr Genet 7: 172, 2019.

Abstract:

Abstract

The spliceosome has been implicated in genome maintenance for decades. Recently, a surge in discoveries in cancer has suggested that the oncogenic mechanism of spliceosomal defects may involve defective genome stability. The action of the core spliceosome prevents R-loop accumulation, and regulates the expression of genome stability factors. At the same time, specific spliceosomal components have non-canonical functions in genome maintenance. Here we review these different models, highlighting their discovery in different model systems, and describing their potential impact on human disease states.

PMID: 30953124