A POLR3B-variant reveals a Pol III transcriptome response dependent on La protein/SSB
Sandy Mattijssen, Kyra Kerkhofs, Joshi Stephen, Acong Yang, Chen G. Han, Yokoyama Tadafumi, James Iben, Saurabh Mishra, Rima M. Sakhawala, Amitabh Ranjan, Mamatha Gowda, William Allen Gahl, Shuo Gu, May Christine V. Malicdan, Richard J Maraia
The paper identifies a POLR3B variant causing mis-splicing and altered Pol III transcriptome, revealing La protein's role in reshaping small ncRNA profiles and identifying tRF-1/tRF-3 as biomarkers for POLR3 deficiency.
bioRxiv · Feb 5, 2024 · PreprintMolecular Biology