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

  • Annie S. Tam
  • Peter C. StirlingEmail author


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.


Splicing DNA damage R-loops Leukemia Cancer 



We thank Dr. S.W. Minaker for critically reading the manuscript. A.S.T. is an Elizabeth C. Watters Scholarship holder. Work on splicing by P.C.S. is supported by a Canadian Institutes of Health Research grant (MOP-136982) and a Rare Diseases Models and Mechanisms (RDMM) Network catalyst grant. We apologize to any authors we did not cite due to lack of space.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Terry Fox LaboratoryBritish Columbia Cancer AgencyVancouverCanada
  2. 2.Department of Medical GeneticsUniversity of British ColumbiaVancouverCanada

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