Widespread predicted nonsense-mediated mRNA decay of alternatively-spliced transcripts of human normal and disease genes
Widespread predicted nonsense-mediated mRNA decay of alternatively-spliced transcripts of human normal and disease genes
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DOI：
10.1093/bioinformatics/btg1015
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发表时间：
2003-07-01
期刊：
影响因子：
5.8
通讯作者：
Brenner, Steven E.
中科院分区：
文献类型：
--
作者：
Green, Richard E.;Lewis, Benjamin P.;Brenner, Steven E.
我们最近已经表明，三分之一的可靠推断的替代mRNA同种型是无义介导的mRNA衰变（NMD）的候选者，NMD是mRNA监视系统（刘易斯et al.，2003，Proc. Natl Acad. Sci. USA，100，189-192）。预期这些转录物不是被翻译以产生蛋白质，而是被降解并且可能受到受调控的非生产性剪接和翻译（RUST）。我们最初的实验研究与这些预测是一致的，并建议在几个人类疾病中的NMD未被重视的作用。
We have recently shown that a third of reliably-inferred alternative mRNA isoforms are candidates for nonsense-mediated mRNA decay (NMD), an mRNA surveillance system (Lewis et al., 2003, Proc. Natl Acad. Sci. USA, 100, 189-192). Rather than being translated to yield protein, these transcripts are expected to be degraded and may be subject to regulated unproductive splicing and translation (RUST). Our initial experimental studies are consistent with these predictions and suggest an unappreciated role for NMD in several human diseases.