ArticleNucleic acids research2021
The integrity of the U12 snRNA 3' stem-loop is necessary for its overall stability.
Article in Nucleic acids research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 14 citations in OpenAlex.
- Multiple quality control checkpoints safeguard small nuclear RNA biogenesis and prevent assembly of aberrant spliceosomes.Genes & development · 2026Article
- Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.Journal of human genetics · 2026Article
- Small nuclear RNA genes in Mendelian disorders.Nature genetics · 2026Review
- Multiple Quality Control Checkpoints Safeguard Small Nuclear RNA Biogenesis and Prevent Assembly of Aberrant Spliceosomes.bioRxiv : the preprint server for biology · 2025Article
- Connecting genotype and phenotype in minor spliceosome diseases.RNA (New York, N.Y.) · 2025Review
- mRNA Transcript Variants Expressed in Mammalian Cells.International journal of molecular sciences · 2025Review
- Distinct functions for the paralogous RBM41 and U11/U12-65K proteins in the minor spliceosome.Nucleic acids research · 2024Article
- Phylogenetic Analysis of Spliceosome SF3a2 in Different Plant Species.International journal of molecular sciences · 2023Article
- Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.Nucleic acids research · 2023Article
- Introns: the "dark matter" of the eukaryotic genome.Frontiers in genetics · 2023Review
- Human spliceosomal snRNA sequence variants generate variant spliceosomes.RNA (New York, N.Y.) · 2021Article
- At the Intersection of Major and Minor Spliceosomes: Crosstalk Mechanisms and Their Impact on Gene Expression.Frontiers in genetics · 2021Review
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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
Disruption of minor spliceosome functions underlies several genetic diseases with mutations in the minor spliceosome-specific small nuclear RNAs (snRNAs) and proteins. Here, we define the molecular outcome of the U12 snRNA mutation (84C>U) resulting in an early-onset form of cerebellar ataxia. To understand the molecular consequences of the U12 snRNA mutation, we created cell lines harboring the 84C>T mutation in the U12 snRNA gene (RNU12). We show that the 84C>U mutation leads to accelerated decay of the snRNA, resulting in significantly reduced steady-state U12 snRNA levels. Additionally, the mutation leads to accumulation of 3'-truncated forms of U12 snRNA, which have undergone the cytoplasmic steps of snRNP biogenesis. Our data suggests that the 84C>U-mutant snRNA is targeted for decay following reimport into the nucleus, and that the U12 snRNA fragments are decay intermediates that result from the stalling of a 3'-to-5' exonuclease. Finally, we show that several other single-nucleotide variants in the 3' stem-loop of U12 snRNA that are segregating in the human population are also highly destabilizing. This suggests that the 3' stem-loop is important for the overall stability of the U12 snRNA and that additional disease-causing mutations are likely to exist in this region.
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