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Updated: Jul 2, 2025
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Novel RNA-Binding Proteins Isolation by the RaPID Methodology
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A POLR3B-variant reveals a Pol III transcriptome response dependent on La protein/SSB
Sandy Mattijssen1, Kyra Kerkhofs1, Joshi Stephen2
1Section on Molecular and Cell Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Biorxiv : the Preprint Server for Biology
|February 27, 2024
Summary
Pathogenic variants in RNA polymerase III (Pol III) cause disease by altering small non-coding RNA profiles. This study reveals tRNA fragments (tRFs) as potential biomarkers for Pol III deficiency.
Area of Science:
- Molecular Biology
- Genetics
- Biochemistry
Background:
- RNA polymerase III (Pol III) is crucial for synthesizing tRNAs and small non-coding RNAs.
- Human POLR3 pathogenic variants lead to developmental disorders, but POLR3 deficiency aspects remain underexplored.
- Specific POLR3B variants cause mis-splicing, impacting Pol III subunit levels and transcription.
Conclusions:
- Decreased Pol III transcripts lead to a functional excess of La protein, altering small ncRNA profiles.
- The study provides new insights into the POLR3 system and its role in small ncRNA regulation.
- tRF-1 and tRF-3 serve as promising biomarkers for POLR3 deficiency.
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