- Distinct nuclear and cytoplasmic quality control pathways degrade snRNA variants: nuclear RNA exosome or TUT4/7-initiated cytoplasmic decay.
- When stabilised, variant snRNAs can assemble into spliceosomes and perturb pre-mRNA splicing, altering transcript isoform abundance.
- Pathogenic mutations in canonical snRNA genes provoke aberrant degradation by these quality control systems and may contribute to human disease.
Genes Dev. 2026 Aug 21. doi: 10.1101/gad.354115.126. Online ahead of print.
ABSTRACT
A new study by Ma and colleagues (doi:10.1101/gad.353690.126) identifies distinct quality control systems that degrade snRNA variants. Variants expressed from snRNA pseudogenes, deficient in 3′ end processing or RNP assembly, are degraded by the nuclear RNA exosome or by cytoplasmic decay initiated by TUT4/7 enzymes. When variant snRNAs are stabilized, they can assemble into spliceosomes and alter splicing. Moreover, pathogenic mutations in canonical snRNA genes can trigger aberrant degradation by these quality control mechanisms, which may contribute to disease pathology. In summary, this work reveals how cells maintain a functional pool of snRNP complexes and links their dysregulation to human diseases.
PMID:42629158 | DOI:10.1101/gad.354115.126
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