Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay
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- 作者：Ramon Roman-Sancheza ; b ; Theodore G. Wensela ; b ; John H. Wilsona ; b ; jwilson@bcm.edu" class="auth_mail" title="E-mail the corresponding author
- 关键词：Retinitis pigmentosa ; Rhodopsin ; Nonsense mutations ; Nonsense-mediated decay ; Patterns of inheritance
- 刊名：Experimental Eye Research
- 出版年：2016
- 出版时间：April 2016
- 年：2016
- 卷：145
- 期：Complete
- 页码：444-449
- 全文大小：352 K
文摘
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Dominant nonsense mutations Q64X and Q344X do not induce NMD.
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Recessive nonsense mutations W161X, and E249X induce NMD.
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Dominant nonsense mutation Y136X, which has a mild phenotype, induces NMD.
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Wortmannin treatment, which inhibits NMD, eliminates Y136X, W161X, and E249X mRNA degradation.
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Inheritance patterns for rhodopsin nonsense mutations correlate with induction of NMD.