Nonsense-mediated mRNA decay of hERG mutations in long QT syndrome

Qiuming Gong, Zhengfeng Zhou

    Research output: Chapter in Book/Report/Conference proceedingChapter

    7 Scopus citations


    Long QT syndrome type 2 (LQT2) is caused by mutations in the human ether-à-go-go related gene (hERG), which encodes the Kv11.1 potassium channel in the heart. Over 30% of identified LQT2 mutations are nonsense or frameshift mutations that introduce premature termination codons (PTCs). Contrary to intuition, the predominant consequence of LQT2 nonsense and frameshift mutations is not the production of truncated proteins, but rather the degradation of mutant mRNA by nonsense-mediated mRNA decay (NMD), an RNA surveillance mechanism that selectively eliminates the mRNA transcripts that contain PTCs. In this chapter, we describe methods to study NMD of hERG nonsense and frameshift mutations in long QT syndrome.

    Original languageEnglish (US)
    Title of host publicationMethods in Molecular Biology
    PublisherHumana Press Inc.
    Number of pages13
    StatePublished - 2018

    Publication series

    NameMethods in Molecular Biology
    ISSN (Print)1064-3745


    • KCNH2
    • Long QT syndrome
    • Nonsense-mediated mRNA decay
    • Potassium channel

    ASJC Scopus subject areas

    • Molecular Biology
    • Genetics


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