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PreprintCC BY-NC 4.0Genes & Development

Guardians of splicing: quality control mechanisms of snRNA variants

  • Harihar Milaganur Mohan1,2
  • Roy Parker2,3
  1. 1Department of Biochemistry, University of Colorado Boulder, Boulder, Colorado 80309, USA
  2. 2Howard Hughes Medical Institute, University of Colorado Boulder, Boulder, Colorado 80309, USA
  3. 3Department of Biochemistry, BioFrontiers Institute, University of Colorado Boulder, Boulder, Colorado 80309, USA
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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.

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Cite

BibTeXRIS
BibTeX
@misc{mohan2026guardians,
  title = {{Guardians of splicing: quality control mechanisms of snRNA variants}},
  author = {Harihar Milaganur Mohan and Roy Parker},
  howpublished = {Genes \& Development},
  year = {2026},
  month = nov,
  doi = {10.1101/gad.354115.126},
  url = {https://doi.org/10.1101/gad.354115.126},
  note = {CC BY-NC 4.0},
}
RIS
TY  - UNPB
TI  - Guardians of splicing: quality control mechanisms of snRNA variants
AU  - Harihar Milaganur Mohan
AU  - Roy Parker
PY  - 2026
DA  - 2026/11/01
PB  - Genes & Development
DO  - 10.1101/gad.354115.126
UR  - https://doi.org/10.1101/gad.354115.126
AB  - 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.
SN  - 0890-9369
SN  - 1549-5477
ER  -