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

    Research output: ResearchChapter

    Abstract

    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.

    LanguageEnglish (US)
    Title of host publicationMethods in Molecular Biology
    PublisherHumana Press Inc.
    Pages37-49
    Number of pages13
    Volume1684
    DOIs
    StatePublished - 2018

    Publication series

    NameMethods in Molecular Biology
    Volume1684
    ISSN (Print)1064-3745

    Fingerprint

    Nonsense Mediated mRNA Decay
    Long QT Syndrome
    Nonsense Codon
    Ether
    Mutation
    Genes
    Frameshift Mutation
    Messenger RNA
    Intuition
    Potassium Channels
    Proteolysis
    RNA

    Keywords

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

    ASJC Scopus subject areas

    • Molecular Biology
    • Genetics

    Cite this

    Gong, Q., & Zhou, Z. (2018). Nonsense-mediated mRNA decay of hERG mutations in long QT syndrome. In Methods in Molecular Biology (Vol. 1684, pp. 37-49). (Methods in Molecular Biology; Vol. 1684). Humana Press Inc.. DOI: 10.1007/978-1-4939-7362-0_4

    Nonsense-mediated mRNA decay of hERG mutations in long QT syndrome. / Gong, Qiuming; Zhou, Zhengfeng.

    Methods in Molecular Biology. Vol. 1684 Humana Press Inc., 2018. p. 37-49 (Methods in Molecular Biology; Vol. 1684).

    Research output: ResearchChapter

    Gong, Q & Zhou, Z 2018, Nonsense-mediated mRNA decay of hERG mutations in long QT syndrome. in Methods in Molecular Biology. vol. 1684, Methods in Molecular Biology, vol. 1684, Humana Press Inc., pp. 37-49. DOI: 10.1007/978-1-4939-7362-0_4
    Gong Q, Zhou Z. Nonsense-mediated mRNA decay of hERG mutations in long QT syndrome. In Methods in Molecular Biology. Vol. 1684. Humana Press Inc.2018. p. 37-49. (Methods in Molecular Biology). Available from, DOI: 10.1007/978-1-4939-7362-0_4
    Gong, Qiuming ; Zhou, Zhengfeng. / Nonsense-mediated mRNA decay of hERG mutations in long QT syndrome. Methods in Molecular Biology. Vol. 1684 Humana Press Inc., 2018. pp. 37-49 (Methods in Molecular Biology).
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