ArticleNucleic acids research2016
Variant U1 snRNAs are implicated in human pluripotent stem cell maintenance and neuromuscular disease.
Article in Nucleic acids research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- A systematic review of non-coding RNA genes with differential expression profiles associated with autism spectrum disorders.PloS one · 2023Pooled it
- Neurodegenerative spliceosomopathies.Frontiers in cell and developmental biology · 2026Review
- SUMO conjugation to promoter-proximal sequence elements-associated proteins impacts on snRNA transcription.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Brain gliomas new transcriptomic discoveries from differentially expressed genes to therapeutic targets.Scientific reports · 2025Article
- The Integrator complex: an emerging complex structure involved in the regulation of gene expression by targeting RNA polymerase II.Functional & integrative genomics · 2024Review
- Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs.Nucleic acids research · 2024Article
- Examining the capacity of human U1 snRNA variants to facilitate pre-mRNA splicing.RNA (New York, N.Y.) · 2024Article
- Deletions of singular U1 snRNA gene significantly interfere with transcription and 3'-end mRNA formation.PLoS genetics · 2023Article
- Development of Engineered-U1 snRNA Therapies: Current Status.International journal of molecular sciences · 2023Review
- Spliceosome assembly and regulation: insights from analysis of highly reduced spliceosomes.RNA (New York, N.Y.) · 2023Review
- IARA: a complete and curated atlas of the biogenesis of spliceosome machinery during RNA splicing.Life science alliance · 2023Article
- NeuroLINCS Proteomics: Defining human-derived iPSC proteomes and protein signatures of pluripotency.Scientific data · 2023Article
- Introns: the "dark matter" of the eukaryotic genome.Frontiers in genetics · 2023Review
- Structural basis of human SNAPc recognizing proximal sequence element of snRNA promoter.Nature communications · 2022Article
- An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients.iScience · 2021Article
- Translational control of stem cell function.Nature reviews. Molecular cell biology · 2021Review
- Human spliceosomal snRNA sequence variants generate variant spliceosomes.RNA (New York, N.Y.) · 2021Article
- Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies.Neuroscience and biobehavioral reviews · 2021Review
- Functional roles and networks of non-coding RNAs in the pathogenesis of neurodegenerative diseases.Journal of biomedical science · 2020Review
- A guide to naming human non-coding RNA genes.The EMBO journal · 2020Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
The U1 small nuclear (sn)RNA (U1) is a multifunctional ncRNA, known for its pivotal role in pre-mRNA splicing and regulation of RNA 3' end processing events. We recently demonstrated that a new class of human U1-like snRNAs, the variant (v)U1 snRNAs (vU1s), also participate in pre-mRNA processing events. In this study, we show that several human vU1 genes are specifically upregulated in stem cells and participate in the regulation of cell fate decisions. Significantly, ectopic expression of vU1 genes in human skin fibroblasts leads to increases in levels of key pluripotent stem cell mRNA markers, including NANOG and SOX2. These results reveal an important role for vU1s in the control of key regulatory networks orchestrating the transitions between stem cell maintenance and differentiation. Moreover, vU1 expression varies inversely with U1 expression during differentiation and cell re-programming and this pattern of expression is specifically de-regulated in iPSC-derived motor neurons from Spinal Muscular Atrophy (SMA) type 1 patient's. Accordingly, we suggest that an imbalance in the vU1/U1 ratio, rather than an overall reduction in Uridyl-rich (U)-snRNAs, may contribute to the specific neuromuscular disease phenotype associated with SMA.
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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.