Trial reportHuman genetics2005
The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay.
Trial report in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 54 citations in OpenAlex.
- Targeted blocking of gene splicing can dysregulate intron-embedded primary microRNAs.Communications biology · 2026Article
- Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.bioRxiv : the preprint server for biology · 2025Article
- A Novel Heterozygous and Pathogenic Variant of the HNF1B Gene Associated with Autosomal Dominant Tubulointerstitial Kidney Disease with a Broad Spectrum of Extrarenal Phenotypes.Internal medicine (Tokyo, Japan) · 2025Article
- Population Genomics of Premature Termination Codons in Cavefish With Substantial Trait Loss.Molecular biology and evolution · 2025Article
- Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.Database : the journal of biological databases and curation · 2024Article
- Features and factors that dictate if terminating ribosomes cause or counteract nonsense-mediated mRNA decay.The Journal of biological chemistry · 2022Review
- Elevated level of lysophosphatidic acid among patients with HNF1B mutations and its role in RCAD syndrome: a multiomic study.Metabolomics : Official journal of the Metabolomic Society · 2022Article
- Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model.Disease models & mechanisms · 2021Article
- How to get away with nonsense: Mechanisms and consequences of escape from nonsense-mediated RNA decay.Wiley interdisciplinary reviews. RNA · 2020Review
- Nonsense mutation-dependent reinitiation of translation in mammalian cells.Nucleic acids research · 2019Article
- Establishment of maturity-onset diabetes of the young-induced pluripotent stem cells from a Japanese patient.Journal of diabetes investigation · 2015Article
- Article
- HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.Nature reviews. Nephrology · 2015Review
- A whole-genome analysis of premature termination codons.Genomics · 2011Article
- Alterations in LMTK2, MSMB and HNF1B gene expression are associated with the development of prostate cancer.BMC cancer · 2010Article
- Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension.Respiratory research · 2010Article
- DISC1 splice variants are upregulated in schizophrenia and associated with risk polymorphisms.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
- Confirmation of RAX gene involvement in human anophthalmia.Clinical genetics · 2008Article
- RNA processing and mRNA surveillance in monogenic diabetes.Gene regulation and systems biology · 2008Article
- Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia.American journal of human genetics · 2008Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
The nonsense-mediated decay (NMD) pathway is an mRNA surveillance mechanism that detects and degrades transcripts containing premature termination codons. The position of a truncating mutation can govern the resulting phenotype as mutations in the last exon evade NMD. In this study we investigated the susceptibility to NMD of six truncating HNF-1beta mutations by allele-specific quantitative real-time PCR using transformed lymphoblastoid cell lines. Four of six mutations (R181X, Q243fsdelC, P328L329fsdelCCTCT and A373fsdel29) showed evidence of NMD with levels of mutant transcript at 71% (p=0.009), 24% (p=0.008), 22% (p=0.008) and 3% (p=0.016) of the wild-type allele respectively. Comparable results were derived from lymphoblastoid cells and renal tubule cells isolated from a patient's overnight urine confirming that cell lines provide a good model for mRNA analysis. Two mutations (H69fsdelAC and P159fsdelT) produced transcripts unexpectedly immune to NMD. We conclude that truncating mutant transcripts of the HNF-1beta gene do not conform to the known rules governing NMD susceptibility, but instead demonstrate a previously unreported 5' to 3' polarity. We hypothesise that this may be due to reinitiation of translation downstream of the premature termination codon. Our study suggests that reinitiation of translation may be an important mechanism in the evasion of NMD, but that other factors such as the distance from the native initiation codon may also play a part.
Indexed as
Identifiers
What OpenQuestion holds
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.