| Online-Ressource |
Verfasst von: | Neu-Yilik, Gabriele [VerfasserIn]  |
| Amthor, Beate [VerfasserIn]  |
| Gehring, Niels H. [VerfasserIn]  |
| Bahri, Sharif [VerfasserIn]  |
| Paidassi, Helena [VerfasserIn]  |
| Hentze, Matthias W. [VerfasserIn]  |
| Kulozik, Andreas [VerfasserIn]  |
Titel: | Mechanism of escape from nonsense-mediated mRNA decay of human β-globin transcripts with nonsense mutations in the first exon |
Verf.angabe: | Gabriele Neu-Yilik, Beate Amthor, Niels H. Gehring, Sharif Bahri, Helena Paidassi, Matthias W. Hentze, and Andreas E. Kulozik |
Jahr: | 2011 |
Umfang: | 12 S. |
Fussnoten: | Gesehen am 22.09.2022 |
Titel Quelle: | Enthalten in: RNA |
Ort Quelle: | Cold Spring Harbor, NY : Laboratory Press, 1995 |
Jahr Quelle: | 2011 |
Band/Heft Quelle: | 17(2011), 5, Seite 843-854 |
ISSN Quelle: | 1469-9001 |
Abstract: | The degradation of nonsense-mutated β-globin mRNA by nonsense-mediated mRNA decay (NMD) limits the synthesis of C-terminally truncated dominant negative β-globin chains and thus protects the majority of heterozygotes from symptomatic β-thalassemia. β-globin mRNAs with nonsense mutations in the first exon are known to bypass NMD, although current mechanistic models predict that such mutations should activate NMD. A systematic analysis of this enigma reveals that (1) β-globin exon 1 is bisected by a sharp border that separates NMD-activating from NMD-bypassing nonsense mutations and (2) the ability to bypass NMD depends on the ability to reinitiate translation at a downstream start codon. The data presented here thus reconcile the current mechanistic understanding of NMD with the observed failure of a class of nonsense mutations to activate this important mRNA quality-control pathway. Furthermore, our data uncover a reason why the position of a nonsense mutation alone does not suffice to predict the fate of the affected mRNA and its effect on protein expression. |
DOI: | doi:10.1261/rna.2401811 |
URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext ; Verlag: https://doi.org/10.1261/rna.2401811 |
| Volltext: http://rnajournal.cshlp.org/content/17/5/843 |
| DOI: https://doi.org/10.1261/rna.2401811 |
Datenträger: | Online-Ressource |
Sprache: | eng |
Sach-SW: | NMD-resistant transcripts |
| nonsense-mediated mRNA decay |
| premature termination |
| translation reinitiation |
| β-thalassemia |
K10plus-PPN: | 1817266217 |
Verknüpfungen: | → Zeitschrift |
Mechanism of escape from nonsense-mediated mRNA decay of human β-globin transcripts with nonsense mutations in the first exon / Neu-Yilik, Gabriele [VerfasserIn]; 2011 (Online-Ressource)