SynthesisHuman genomics2011
A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease.
Synthesis in Human genomics, 2011. 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
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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
24 citing papers in PubMed, 42 citations in OpenAlex.
- "Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.Molecular genetics & genomic medicine · 2019Trial
- Protein C-terminal variations impact proteostasis.Nature communications · 2026Article
- A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics.The Journal of allergy and clinical immunology · 2025Article
- Massive mutagenesis reveals an incomplete amyloid motif in Bri2 that turns amyloidogenic upon C-terminal extension.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Nonstop mutations cause loss of renal tumor suppressor proteinsScience advances · 2025Article
- Identification of a novel homozygousFrontiers in genetics · 2025Article
- Mechanisms and Delivery of tRNA Therapeutics.Chemical reviews · 2024Review
- Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.PloS one · 2022Article
- Identification of two novel variants of theFrontiers in molecular neuroscience · 2022Article
- Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing LossIranian biomedical journal · 2021Article
- eIF4G-driven translation initiation of downstream ORFs in mammalian cells.Nucleic acids research · 2020Article
- Mutational analysis ofIranian journal of basic medical sciences · 2018Article
- BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.Brain : a journal of neurology · 2018Article
- Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.Orphanet journal of rare diseases · 2018Article
- Mutational landscape of RNA-binding proteins in human cancers.RNA biology · 2018Article
- Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.Journal of human genetics · 2017Article
- A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.Journal of assisted reproduction and genetics · 2017Article
- Translation readthrough mitigation.Nature · 2016Article
- Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.American journal of human genetics · 2016Article
- Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
'Nonstop' mutations are single base-pair substitutions that occur within translational termination (stop) codons and which can lead to the continued and inappropriate translation of the mRNA into the 3'-untranslated region. We have performed a meta-analysis of the 119 nonstop mutations (in 87 different genes) known to cause human inherited disease, examining the sequence context of the mutated stop codons and the average distance to the next alternative in-frame stop codon downstream, in comparison with their counterparts from control (non-mutated) gene sequences. A paucity of alternative in-frame stop codons was noted in the immediate vicinity (0-49 nucleotides downstream) of the mutated stop codons as compared with their control counterparts (p = 7.81 × 10-4). This implies that at least some nonstop mutations with alternative stop codons in close proximity will not have come to clinical attention, possibly because they will have given rise to stable mRNAs (not subject to nonstop mRNA decay) that are translatable into proteins of near-normal length and biological function. A significant excess of downstream in-frame stop codons was, however, noted in the range 150-199 nucleotides from the mutated stop codon (p = 8.55 × 10-4). We speculate that recruitment of an alternative stop codon at greater distance from the mutated stop codon may trigger nonstop mRNA decay, thereby decreasing the amount of protein product and yielding a readily discernible clinical phenotype. Confirmation or otherwise of this postulate must await the emergence of a clearer understanding of the mechanism of nonstop mRNA decay in mammalian cells.
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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.