Cited by 406RNA Research and SplicingRNA and protein synthesis mechanismsHemoglobinopathies and Related Disorders

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Binary specification of nonsense codons by splicing and cytoplasmic translation

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Thermann, Rolf, Neu‐Yilik, Gabriele, Deters, Andrea, Frede, Ute, Wehr, Kristina, Hagemeier, Christian, Hentze, Matthias W., Kulozik, Andreas E.·1998·The EMBO Journal

DOI 10.1093/emboj/17.12.3484PMC PMC1170685

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Abstract

Premature translation termination codons resulting from nonsense or frameshift mutations are common causes of genetic disorders. Complications arising from the synthesis of C-terminally truncated polypeptides can be avoided by 'nonsense-mediated decay' of the mutant mRNAs. Premature termination codons in the beta-globin mRNA cause the common recessive form of beta-thalassemia when the affected mRNA is degraded, but the more severe dominant form when the mRNA escapes nonsense-mediated decay. We demonstrate that cells distinguish a premature termination codon within the beta-globin mRNA from the physiological translation termination codon by a two-step specification mechanism. According to the binary specification model proposed here, the positions of splice junctions are first tagged during splicing in the nucleus, defining a stop codon operationally as a premature termination codon by the presence of a 3' splicing tag. In the second step, cytoplasmic translation is required to validate the 3' splicing tag for decay of the mRNA. This model explains nonsense-mediated decay on the basis of conventional molecular mechanisms and allows us to propose a common principle for nonsense-mediated decay from yeast to man.

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Authors: Thermann, R., Neu‐Yilik, G., Deters, A., Frede, U., Wehr, K., Hagemeier, C., Hentze, M. W., & Kulozik, A. E.
Affiliations: Humboldt-Universität zu Berlin (DE)
European Molecular Biology Laboratory (DE)
Corresponding author: Hentze, Matthias W.
Kulozik, Andreas E.
ORCID: Neu‐Yilik, Gabriele
Wehr, Kristina
Hagemeier, Christian
Hentze, Matthias W.
Kulozik, Andreas E.
Venue: The EMBO Journal
Publisher: Springer Science and Business Media LLC
Published: 1998-06-15
Volume: 17
Issue: 12
Pages: 3484-3494
ISSN: 0261-4189 (ISSN-L)
1460-2075
DOI: 10.1093/emboj/17.12.3484
PMC: PMC1170685
OpenAlex: W2036625038
Cited by: 406
References: 59
Citations by year: 2026: 8 · 2025: 9 · 2024: 3 · 2023: 12 · 2022: 15 · 2021: 17 · 2020: 15 · 2019: 14 · 2018: 15 · 2017: 12 · 2016: 15 · 2015: 15 · 2014: 8 · 2013: 19 · 2012: 8
FWCI: 7.69
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: The EMBO Journal (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Deutsche Forschungsgemeinschaft
Chinese Academy of Agricultural Sciences
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA and protein synthesis mechanisms
Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
Keywords: nonsense-mediated mRNA decay, stop codon, premature stop codon, beta-globin mRNA, beta-thalassemia, splicing, splice junctions, cytoplasmic translation, mRNA degradation, frameshift mutation
MeSH terms: HeLa Cells, Humans, RNA, Messenger, Protein Biosynthesis, Codon, Terminator, Codon, Nonsense, Fluorescent Antibody Technique, Indirect

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Binary specification of nonsense codons by splicing and cytoplasmic translation

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