Nonsense-mediated mRNA decay (NMD): a bifunctional mechanism in human physiology and disease

Fernandes, Rafael; Romão, Luísa

http://hdl.handle.net/10400.18/7738

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Authors

Fernandes, Rafael

Romão, Luísa

Abstract(s)

Proteins are the working-units of the cell, which are encoded by thousands of genes that pass their information into an intermediate molecule, the messenger RNA (mRNA). For this flow of information – from genes to RNA (transcription), and then into proteins (translation) – to occur properly, the cell has developed several check points and mechanisms that limit the occurrence and transmission of errors. Some of these mechanisms act at the mRNA level to ensure that the information transcribed from a gene will yield a proper functional protein after mRNA translation. Nonsense-mediated mRNA decay (NMD) is a translation-dependent surveillance mechanism that rapidly degrades transcripts with premature stop codons (PTCs), like the ones bearing nonsense mutations.

Description

Publication: Fernandes R, Nogueira G, da Costa PJ, Pinto F, Romão L. Nonsense-Mediated mRNA Decay in Development, Stress and Cancer. Adv Exp Med Biol. 2019;1157:41-83. doi: 10.1007/978-3-030-19966-1_3
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Keywords

Nonsense-mediated mRNA Decay Gene Expression Regulation Human Disease Integrated Stress Response Tumorigenesis Unfolded Protein Response mRNA Surveillance Genómica Funcional e Estrutural Doenças Genética