Lookup NU author(s): Dr Elisa Molinari,
Dr Shalabh Srivastava,
Professor John Sayer,
Dr Simon Ramsbottom
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
Mutations that give rise to premature termination codons are a common cause of inherited genetic diseases. When transcripts containing these changes are generated, they are usually rapidly removed by the cell through the process of nonsense-mediated decay. Here we discuss observed changes in transcripts of the centrosomal protein CEP290 resulting not from degradation, but from changes in exon usage. We also comment on a landmark paper (Drivas et al. Sci Transl Med. 2015) where modelling this process of exon usage may be used to predict disease severity in CEP290 ciliopathies, and how understanding this process may potentially be used for therapeutic benefit in the future.
Author(s): Molinari E, Srivastava S, Sayer JA, Ramsbottom SA
Publication type: Article
Publication status: Published
Journal: F1000 Research
Online publication date: 12/05/2017
Acceptance date: 12/05/2017
Date deposited: 01/08/2017
ISSN (electronic): 2046-1402
Publisher: Faculty of 1000 Ltd.
PubMed id: 28690834
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