RNA degradation is a vital post-transcriptional process which ensures that transcripts are maintained at the correct level within the cell. DIS3L2 and XRN1 are conserved exoribonucleases that are critical for the degradation of cytoplasmic RNAs. Although the molecular mechanisms of RNA degradation by DIS3L2 and XRN1 have been well studied, less is known about their specific roles in the development of multicellular organisms or human disease. This review focusses on the roles of DIS3L2 and XRN1 in the pathogenesis of human disease, particularly in relation to phenotypes seen in model organisms. The known diseases associated with loss of activity of DIS3L2 and XRN1 are discussed, together with possible mechanisms and cellular pathways leading to these disease conditions.
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October 2016
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Alternative splicing of intrinsically disordered segments can rewire protein interaction networks. In this issue, the Biochemical Society’s Colworth Medal winner, M. Madan Babu explores the contribution of intrinsically disordered regions to protein function, cellular complexity and human disease; see pages 1185–1200. [Credit: Guilhem Chalancon, MRC Laboratory of Molecular Biology, Cambridge, UK.]
Review Article|
October 19 2016
The roles of the exoribonucleases DIS3L2 and XRN1 in human disease
Amy L. Pashler;
Amy L. Pashler
1Brighton and Sussex Medical School, University of Sussex, Medical Research Building, Falmer, Brighton BN1 9PS, U.K.
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Benjamin P. Towler;
Benjamin P. Towler
1Brighton and Sussex Medical School, University of Sussex, Medical Research Building, Falmer, Brighton BN1 9PS, U.K.
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Christopher I. Jones;
Christopher I. Jones
2Brighton and Sussex Medical School, Department of Primary Care and Public Health, University of Brighton, Falmer, Brighton BN1 9PH, U.K.
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Sarah F. Newbury
Sarah F. Newbury
1Brighton and Sussex Medical School, University of Sussex, Medical Research Building, Falmer, Brighton BN1 9PS, U.K.
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Publisher: Portland Press Ltd
Received:
April 19 2016
Revision Received:
May 23 2016
Accepted:
May 26 2016
Online ISSN: 1470-8752
Print ISSN: 0300-5127
© 2016 The Author(s); published by Portland Press Limited on behalf of the Biochemical Society
2016
Biochem Soc Trans (2016) 44 (5): 1377–1384.
Article history
Received:
April 19 2016
Revision Received:
May 23 2016
Accepted:
May 26 2016
Citation
Amy L. Pashler, Benjamin P. Towler, Christopher I. Jones, Sarah F. Newbury; The roles of the exoribonucleases DIS3L2 and XRN1 in human disease. Biochem Soc Trans 15 October 2016; 44 (5): 1377–1384. doi: https://doi.org/10.1042/BST20160107
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