ArticleMolecular and cellular biology2001
Nonsense-mediated decay of human HEXA mRNA.
Article in Molecular and cellular biology, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 85 citations in OpenAlex.
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- A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies.Journal of clinical immunology · 2024Article
- Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing.Molecular therapy. Methods & clinical development · 2020Article
- Dissecting the functions of SMG5, SMG7, and PNRC2 in nonsense-mediated mRNA decay of human cells.RNA (New York, N.Y.) · 2018Article
- The role of nucleotide composition in premature termination codon recognition.BMC bioinformatics · 2016Article
- NANS-mediated synthesis of sialic acid is required for brain and skeletal development.Nature genetics · 2016Article
- Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).Human molecular genetics · 2016Article
- Review
- Recursive splicing in long vertebrate genes.Nature · 2015Article
- Synonymous codon usage affects the expression of wild type and F508del CFTR.Journal of molecular biology · 2015Article
- Nonsense-Mediated mRNA Decay: Degradation of Defective Transcripts Is Only Part of the Story.Annual review of genetics · 2015Review
- Article
- Interplay between pre-mRNA splicing and microRNA biogenesis within the supraspliceosome.Nucleic acids research · 2014Article
- Comparison of EJC-enhanced and EJC-independent NMD in human cells reveals two partially redundant degradation pathways.RNA (New York, N.Y.) · 2013Article
- Cytoplasmic and nuclear quality control and turnover of single-stranded RNA modulate post-transcriptional gene silencing in plants.Nucleic acids research · 2013Article
- NMD: a multifaceted response to premature translational termination.Nature reviews. Molecular cell biology · 2012Review
- Genome-wide activation of latent donor splice sites in stress and disease.Nucleic acids research · 2012Article
- Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.International journal of oncology · 2012Article
- RNA decay and RNA silencing in plants: competition or collaboration?Frontiers in plant science · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Nonsense-mediated mRNA decay (NMD), the loss of mRNAs carrying premature stop codons, is a process by which cells recognize and degrade nonsense mRNAs to prevent possibly toxic effects of truncated peptides. Most mammalian nonsense mRNAs are degraded while associated with the nucleus, but a few are degraded in the cytoplasm; at either site, there is a requirement for translation and for an intron downstream of the early stop codon. We have examined the NMD of a mutant HEXA message in lymphoblasts derived from a Tay-Sachs disease patient homozygous for the common frameshift mutation 1278ins4. The mutant mRNA was nearly undetectable in these cells and increased to approximately 40% of normal in the presence of the translation inhibitor cycloheximide. The stabilized transcript was found in the cytoplasm in association with polysomes. Within 5 h of cycloheximide removal, the polysome-associated nonsense message was completely degraded, while the normal message was stable. The increased lability of the polysome-associated mutant HEXA mRNA shows that NMD of this endogenous mRNA occurred in the cytoplasm. Transfection of Chinese hamster ovary cells showed that expression of an intronless HEXA minigene harboring the frameshift mutation or a closely located nonsense codon resulted in half the normal mRNA level. Inclusion of multiple downstream introns decreased the abundance further, to about 20% of normal. Thus, in contrast to other systems, introns are not absolutely required for NMD of HEXA mRNA, although they enhance the low-HEXA-mRNA phenotype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.