ArticleProceedings of the National Academy of Sciences of the United States of America1992
Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed, 120 citations in OpenAlex.
- Real-time imaging of transcriptional feedback in nonsense-mediated mRNA decay.Science advances · 2026Article
- The Coup-TFII orphan nuclear receptor is an activator of the γ-globin gene.Haematologica · 2021Article
- Unspliced precursors of NMD-sensitive β-globin transcripts exhibit decreased steady-state levels in erythroid cells.PloS one · 2012Article
- Internal ribosome entry sequence-mediated translation initiation triggers nonsense-mediated decay.EMBO reports · 2006Article
- Premature termination codons do not affect the rate of splicing of neighboring introns.RNA (New York, N.Y.) · 2004Article
- Molecular basis of 3-hydroxy-3-methylglutaric aciduria.Journal of physiology and biochemistry · 2003Article
- Rapid deadenylation triggered by a nonsense codon precedes decay of the RNA body in a mammalian cytoplasmic nonsense-mediated decay pathway.Molecular and cellular biology · 2003Article
- Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.American journal of human genetics · 2002Article
- Intranuclear degradation of nonsense codon-containing mRNA.EMBO reports · 2002Article
- Nonsense-mediated decay of human HEXA mRNA.Molecular and cellular biology · 2001Article
- Nonsense-mediated decay of glutathione peroxidase 1 mRNA in the cytoplasm depends on intron position.The EMBO journal · 2000Article
- Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.American journal of human genetics · 1999Article
- A premature termination codon interferes with the nuclear function of an exon splicing enhancer in an open reading frame-dependent manner.Molecular and cellular biology · 1999Article
- Binary specification of nonsense codons by splicing and cytoplasmic translation.The EMBO journal · 1998Article
- Dual mechanisms for the low plasma levels of truncated apolipoprotein B proteins in familial hypobetalipoproteinemia. Analysis of a new mouse model with a nonsense mutation in the Apob gene.The Journal of clinical investigation · 1998Article
- Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.American journal of human genetics · 1998Article
- Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia.The Journal of experimental medicine · 1998Article
- The tripartite leader sequence of subgroup C adenovirus major late mRNAs can increase the efficiency of mRNA export.Journal of virology · 1998Article
- Enhanced expression in tobacco of the gene encoding green fluorescent protein by modification of its codon usage.Plant molecular biology · 1997Article
- T cell receptor (TCR) mini-gene mRNA expression regulated by nonsense codons: a nuclear-associated translation-like mechanism.The Journal of experimental medicine · 1997Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A common mutation causing thalassemia in Mediterranean populations is an amber (UAG) nonsense mutation at the 39th codon of the human beta-globin gene, the beta-39 mutation. Studies of mRNA metabolism in erythroblasts from patients with beta-39 thalassemia and studies using heterologous transfection systems have suggested the possibility that this mutation not only affects protein synthesis but also alters mRNA metabolism. The effects of this mutation on several steps in the metabolism of mRNA have been investigated by transfection of the gene into permanent cell lines bearing a temperature-sensitive RNA polymerase II. Several RNA expression studies were performed, including analysis of transcription, mRNA stability, mRNA splicing accuracy, and mRNA polyadenylation. The results suggest that the defect in expression of the beta-39 mRNA occurs at a step prior to the accumulation of mRNA in the cytoplasm.
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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.