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A mutation in POLR3E impairs antiviral immune response and RNA polymerase III.
Ramanathan A, Weintraub M, Orlovetskie N, Serruya R, Mani D, Marcu O, Stepensky P, Weisblum Y, Djian E, Shaag A, Revel-Vilk S, Fried I, Kotler M, Rouvinski A, Wolf D, Elpeleg O, Jarrous N. Ramanathan A, et al. Proc Natl Acad Sci U S A. 2020 Sep 8;117(36):22113-22121. doi: 10.1073/pnas.2009947117. Epub 2020 Aug 25. Proc Natl Acad Sci U S A. 2020. PMID: 32843346 Free PMC article.
Remarkably, the molecular mechanism underlying the D40H mutation of POLR3E involves the assembly of defective initiation complexes of Pol III. Our study links mutated POLR3E and Pol III to an innate immune deficiency state in humans....
Remarkably, the molecular mechanism underlying the D40H mutation of POLR3E involves the assembly of defective initiation complexes of …
RNA Polymerase III Subunit Mutations in Genetic Diseases.
Lata E, Choquet K, Sagliocco F, Brais B, Bernard G, Teichmann M. Lata E, et al. Front Mol Biosci. 2021 Jul 30;8:696438. doi: 10.3389/fmolb.2021.696438. eCollection 2021. Front Mol Biosci. 2021. PMID: 34395528 Free PMC article. Review.
Surprisingly, it was discovered in the last decade that various inherited mutations in genes encoding nine distinct subunits of Pol III cause tissue-specific diseases rather than a general failure of all vital functions. Mutations in the POLR3A, POLR3C, POLR3E and POLR3F s …
Surprisingly, it was discovered in the last decade that various inherited mutations in genes encoding nine distinct subunits of Pol III caus …
Transcriptional interference by RNA polymerase III affects expression of the Polr3e gene.
Yeganeh M, Praz V, Cousin P, Hernandez N. Yeganeh M, et al. Genes Dev. 2017 Feb 15;31(4):413-421. doi: 10.1101/gad.293324.116. Epub 2017 Mar 13. Genes Dev. 2017. PMID: 28289142 Free PMC article.
A mammalian interspersed repeat (MIR) nested in antisense orientation within the first intron of the Polr3e gene, encoding an RNA polymerase III (Pol III) subunit, is conserved in mammals and highly occupied by Pol III. Using a fluorescence assay, CRISPR/Cas9-mediated dele …
A mammalian interspersed repeat (MIR) nested in antisense orientation within the first intron of the Polr3e gene, encoding an RNA pol …
Recurrent Implantation Failure: Bioinformatic Discovery of Biomarkers and Identification of Metabolic Subtypes.
Fan Y, Shi C, Huang N, Fang F, Tian L, Wang J. Fan Y, et al. Int J Mol Sci. 2023 Aug 30;24(17):13488. doi: 10.3390/ijms241713488. Int J Mol Sci. 2023. PMID: 37686293 Free PMC article.
We uncovered 109 RIF-related metabolic genes and proposed a novel two-subtype RIF classification according to their metabolic features. Eight characteristic genes (SRD5A1, POLR3E, PPA2, PAPSS1, PRUNE, CA12, PDE6D, and RBKS) were identified, and the area under curve (AUC) w …
We uncovered 109 RIF-related metabolic genes and proposed a novel two-subtype RIF classification according to their metabolic features. Eigh …
Identification and initial characterization of POLIII-driven transcripts by msRNA-sequencing.
Zorn P, Misiak D, Gekle M, Köhn M. Zorn P, et al. RNA Biol. 2021 Nov;18(11):1807-1817. doi: 10.1080/15476286.2020.1871216. Epub 2021 Jan 18. RNA Biol. 2021. PMID: 33404286 Free PMC article.
The validation of these uncharacterized msRNAs identified an ncRNA in antisense orientation from the POLR3E locus transcribed by POLIII. This msRNA, termed POLAR (POLR3E Antisense RNA), has a strikingly short half-life, localizes to paraspeckles (PSPs) and associate …
The validation of these uncharacterized msRNAs identified an ncRNA in antisense orientation from the POLR3E locus transcribed by POLI …
A POLR3B-variant reveals a Pol III transcriptome response dependent on La protein/SSB.
Mattijssen S, Kerkhofs K, Stephen J, Yang A, Han CG, Tadafumi Y, Iben JR, Mishra S, Sakhawala RM, Ranjan A, Gowda M, Gahl WA, Gu S, Malicdan MC, Maraia RJ. Mattijssen S, et al. bioRxiv [Preprint]. 2024 Feb 5:2024.02.05.577363. doi: 10.1101/2024.02.05.577363. bioRxiv. 2024. PMID: 38410490 Free PMC article. Preprint.
Genome-edited POLR3B(1625A>G) HEK293 cells acquired the mis-splicing with decreases in multiple POLR3 subunits and TFIIIB, although display auto-upregulation of the Pol III termination-reinitiation subunit POLR3E. La protein was increased relative to its abundant pre-tR …
Genome-edited POLR3B(1625A>G) HEK293 cells acquired the mis-splicing with decreases in multiple POLR3 subunits and TFIIIB, although displ …
[Immunopatological and genetic aspects of pathogenesis of CNS lesions in VZV infection].
Skripchenko EY, Zheleznikova GF, Skripchenko NV, Alekseeva LA, Goleva OV, Bessonova TV, Zhirkov AA. Skripchenko EY, et al. Zh Nevrol Psikhiatr Im S S Korsakova. 2022;122(10):46-56. doi: 10.17116/jnevro202212210146. Zh Nevrol Psikhiatr Im S S Korsakova. 2022. PMID: 36279228 Review. Russian.
The critical mechanisms of immune defense against VZV, which are the main reason for the penetration of the virus into the CNS and the development of neurological disorders, as well as the relationship between VZV genotypes, the presence of mutations in the gE gene and the nature …
The critical mechanisms of immune defense against VZV, which are the main reason for the penetration of the virus into the CNS and the devel …
Structure of human RNA polymerase III.
Ramsay EP, Abascal-Palacios G, Daiß JL, King H, Gouge J, Pilsl M, Beuron F, Morris E, Gunkel P, Engel C, Vannini A. Ramsay EP, et al. Nat Commun. 2020 Dec 17;11(1):6409. doi: 10.1038/s41467-020-20262-5. Nat Commun. 2020. PMID: 33335104 Free PMC article.
Genome and chromosome wide association studies for growth traits in Simmental and Simbrah cattle.
Calderón-Chagoya R, Vega-Murillo VE, García-Ruiz A, Ríos-Utrera Á, Martínez-Velázquez G, Montaño-Bermúdez M. Calderón-Chagoya R, et al. Anim Biosci. 2023 Jan;36(1):19-28. doi: 10.5713/ab.21.0517. Epub 2022 Jun 30. Anim Biosci. 2023. PMID: 35798032 Free PMC article.
It stands out from the enrichment analysis of the pathways for RNA polymerase (POLR2G, POLR3E) and GABAergic synapse (GABRR1, GABRR3) for Simmental cattle and p53 signaling pathway (BID, SERPINB5) for Simbrah cattle. ...
It stands out from the enrichment analysis of the pathways for RNA polymerase (POLR2G, POLR3E) and GABAergic synapse (GABRR1, GABRR3) …
Mutations in RNA Polymerase III genes and defective DNA sensing in adults with varicella-zoster virus CNS infection.
Carter-Timofte ME, Hansen AF, Christiansen M, Paludan SR, Mogensen TH. Carter-Timofte ME, et al. Genes Immun. 2019 Mar;20(3):214-223. doi: 10.1038/s41435-018-0027-y. Epub 2018 May 1. Genes Immun. 2019. PMID: 29728610
These mutations were located in the coding regions of the subunits POLR3A and POLR3E. In functional assays, we found impaired expression of antiviral and inflammatory cytokines in response to the POL III agonist Poly(dA:dT) as well as increased viral replication in patient …
These mutations were located in the coding regions of the subunits POLR3A and POLR3E. In functional assays, we found impaired express …
13 results