NMD: a multifaceted response to premature translational termination
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Although most mRNA molecules derived from protein-coding genes are destined to be translated into functional polypeptides, some are eliminated by cellular quality control pathways that collectively perform the task of mRNA surveillance. In the nonsense-mediated decay (NMD) pathway premature translation termination promotes the recruitment of a set of factors that destabilize a targeted mRNA. The same factors also seem to have key roles in repressing the translation of the mRNA, dissociating its terminating ribosome and messenger ribonucleoproteins (mRNPs), promoting the degradation of its truncated polypeptide product and possibly even feeding back to the site of transcription to interfere with splicing of the primary transcript.
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Because no exon-exon boundary in ADNP mRNA lies downstream of any of the mutations, nonsense-mediated RNA decay is unlikely.
“Since no exon-exon boundary in the ADNP mRNA is present downstream from any of the mutations, nonsense mediated RNA decay (NMD) is unlikely28-30.”
From A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP (2014) · cites this paper as [30]
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- Authors
- Kervestin, S., & Jacobson, A.
- Affiliations
- University of Massachusetts Chan Medical School (US)
- Corresponding author
- Jacobson, Allan
- ORCID
- Jacobson, Allan
- Venue
- Nature Reviews Molecular Cell Biology
- Published
- 2012-10-17
- Volume
- 13
- Issue
- 11
- Pages
- 700-712
- ISSN
- 1471-0072 (ISSN-L)
- 1471-0080
- PMC
- PMC3970730
- OpenAlex
- W2057726003
- Cited by
- 572
- References
- 190
- Citations by year
- 2026: 27 · 2025: 41 · 2024: 20 · 2023: 33 · 2022: 22 · 2021: 20 · 2020: 33 · 2019: 30 · 2018: 45 · 2017: 38 · 2016: 53 · 2015: 63 · 2014: 83 · 2013: 61 · 2012: 2
- FWCI
- 6.10
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Molecular Cell Biology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion)
- Funders
- National Institute of General Medical Sciences (R37GM027757, R01GM027757)
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA regulation and disease
- Keywords
- nonsense-mediated mRNA decay, mRNA surveillance, mRNA degradation, translation repression, ribonucleoprotein complexes, stop codon
- MeSH terms
- Humans, Peptide Chain Termination, Translational, Peptide Termination Factors, Ribonucleoproteins, Ribosomes, RNA, Messenger, Transcription Factors, Protein Biosynthesis, Trans-Activators, RNA-Binding Proteins, Codon, Nonsense, RNA Helicases, RNA Stability, Nonsense Mediated mRNA Decay
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