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

  • Annie S. Tam
  • Peter C. StirlingEmail author
Mini-Review

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.

Keywords

Splicing DNA damage R-loops Leukemia Cancer 

Notes

Acknowledgements

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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