Article
A mutation in POLR3E impairs antiviral immune response and RNA polymerase III.
Proceedings of the National Academy of Sciences of the United States of America - 8 Sept 2020
Ramanathan Aravind, Weintraub Michael, Orlovetskie Natalie, Serruya Raphael, Mani Dhivakar, Marcu Orly, Stepensky Polina, Weisblum Yiska, Djian Esther, Shaag Avraham, Revel-Vilk Shoshana, Fried Iris, Kotler Moshe, Rouvinski Alex, Wolf Dana, Elpeleg Orly, Jarrous Nayef
Abstract excerpt
RNA polymerase (Pol) III has a noncanonical role of viral DNA sensing in the innate immune system. This polymerase transcribes viral genomes to produce RNAs that lead to induction of type I interferons (IFNs). However, the genetic and functional links of Pol III to innate immunity in humans remain largely unknown. Here, we describe a rare homozygous mutation (D40H) in the POLR3E gene, coding for a protein subunit...
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