Molinari Elisa, Srivastava Shalabh, Sayer John A, Ramsbottom Simon A
Institute of Genetic Medicine, Newcastle University, Newcastle, NE1 3BZ, UK.
Renal Services, Newcastle upon Tyne NHS Foundation Trust, Newcastle, NE7 7DN, UK.
F1000Res. 2017 May 12;6:669. doi: 10.12688/f1000research.11553.1. eCollection 2017.
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 . Sci Transl Med. 2015) where modelling this process of exon usage may be used to predict disease severity in ciliopathies, and how understanding this process may potentially be used for therapeutic benefit in the future.
导致过早终止密码子的突变是遗传性疾病的常见原因。当产生包含这些变化的转录本时，它们通常会被细胞通过无义介导的衰变过程迅速清除。在这里，我们讨论了中心体蛋白CEP290转录本中观察到的变化，这些变化不是由降解引起的，而是由外显子使用的变化引起的。我们还评论了一篇具有里程碑意义的论文（Drivas等人，《科学转化医学》，2015年），其中外显子使用过程的建模可用于预测纤毛病的疾病严重程度，以及了解这一过程如何可能在未来用于治疗益处。
