ArticleThe EMBO journal2012
A complex immunodeficiency is based on U1 snRNP-mediated poly(A) site suppression.
Article in The EMBO journal, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 26 citations in OpenAlex.
- A nuclear RNA degradation code is recognized by PAXT for eukaryotic transcriptome surveillance.Molecular cell · 2025Article
- mRNA nuclear export: how mRNA identity features distinguish functional RNAs from junk transcripts.RNA biology · 2024Review
- U1 snRNP telescripting: molecular mechanisms and beyond.RNA biology · 2021Review
- Let It Go: HIV-1Journal of virology · 2021Review
- Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B.PLoS genetics · 2020Article
- Regulating Divergent Transcriptomes through mRNA Splicing and Its Modulation Using Various Small Compounds.International journal of molecular sciences · 2020Review
- U1 snRNP regulates cancer cell migration and invasion in vitro.Nature communications · 2020Article
- A Complex of U1 snRNP with Cleavage and Polyadenylation Factors Controls Telescripting, Regulating mRNA Transcription in Human Cells.Molecular cell · 2019Article
- Suboptimal RNA-RNA interaction limits U1 snRNP inhibition of canonical mRNA 3' processing.RNA biology · 2019Article
- Lysosome: The metabolic signaling hub.Traffic (Copenhagen, Denmark) · 2019Review
- Sequence Determinants for Nuclear Retention and Cytoplasmic Export of mRNAs and lncRNAs.Frontiers in genetics · 2018Review
- Processing and transcriptome expansion at the mRNA 3' end in health and disease: finding the right end.Pflugers Archiv : European journal of physiology · 2016Review
- Article
- Competition within Introns: Splicing Wins over Polyadenylation via a General Mechanism.Acta naturae · 2013Article
- Poly(A) motif prediction using spectral latent features from human DNA sequences.Bioinformatics (Oxford, England) · 2013Article
- U1snRNP-mediated suppression of polyadenylation in conjunction with the RNA structure controls poly (A) site selection in foamy viruses.Retrovirology · 2013Article
- Review
- U1 snRNP-mediated poly(A) site suppression: beneficial and deleterious for mRNA fate.RNA biology · 2013Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Biallelic mutations in the untranslated regions (UTRs) of mRNAs are rare causes for monogenetic diseases whose mechanisms remain poorly understood. We investigated a 3'UTR mutation resulting in a complex immunodeficiency syndrome caused by decreased mRNA levels of p14/robld3 by a previously unknown mechanism. Here, we show that the mutation creates a functional 5' splice site (SS) and that its recognition by the spliceosomal component U1 snRNP causes p14 mRNA suppression in the absence of splicing. Histone processing signals are able to rescue p14 expression. Therefore, the mutation interferes only with canonical poly(A)-site 3' end processing. Our data suggest that U1 snRNP inhibits cleavage or poly(A) site recognition. This is the first description of a 3'UTR mutation that creates a functional 5'SS causative of a monogenetic disease. Moreover, our data endorse the recently described role of U1 snRNP in suppression of intronic poly(A) sites, which is here deleterious for p14 mRNA biogenesis.
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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.