Ask about this productRelated genes to: POLR3F antibody
- Gene:
- POLR3F NIH gene
- Name:
- RNA polymerase III subunit F
- Previous symbol:
- -
- Synonyms:
- RPC39, RPC6
- Chromosome:
- 20p11.23
- Locus Type:
- gene with protein product
- Date approved:
- 2001-09-17
- Date modifiied:
- 2016-07-11
Related products to: POLR3F antibody
Related articles to: POLR3F antibody
- Varicella zoster virus (VZV) is a ubiquitous human alphaherpesvirus, latently present in the majority of the population. Knowledge on the molecular mechanisms underlying VZV reactivation from peripheral ganglia is incomplete, as is our understanding of why only a small number of individuals develop life-threatening complications following reactivation. Previously, we have reported a pathogenic mutation in the POLR3F subunit of the cytosolic DNA sensor RNA polymerase III in two monozygotic twins diagnosed with recurring encephalitis and vasculitis, caused by VZV reactivation. - Source: PubMed
Publication date: 2026/02/25
Wang JiayiCarter-Timofte Madalina ERitter BirgitThomsen Michelle MViejo-Borbolla AbelMogensen Trine H - RNA polymerase III (RNA Pol III)-related disorders (POLR3-RDs) are a group of clinical entities characterized by causal variants in genes encoding RNA Pol III subunits, including POLR3A, POLR3B, POLR1C, POLR1D, POLR3D, POLR3E, POLR3F, POLR3GL, POLR3H, and POLR3K. These typically cause developmental phenotypes affecting the central nervous system; the eyes; connective tissues including bones, teeth, and endocrine axes; and the reproductive system. Similar phenotypes can be caused by variants in separate subunit genes (multigenic). In contrast, variants in the same gene can cause different phenotypes (pleiotropy), making genotype-phenotype correlation challenging. POLR3-RDs, though individually rare, have never been analyzed collectively. To bridge this gap, we developed an extensive database encompassing all published and unpublished cases of POLR3-RDs and conducted the first comprehensive genotype-phenotype correlation study across their entire spectrum. This work contributed new cases, representing 13% of all documented cases in the literature, along with 31 novel variants, accounting for 8% of all identified variants. This database was constructed by systematically reviewing the literature and integrating data from patients under the care of our international network of collaborators. The dataset includes genotype curation, bioinformatics, prior publications, and individual patient outcome information. By leveraging these comprehensive data, we were able to establish clear genotype-phenotype correlations for some pathogenic variants, which will help provide optimal clinical care and genetic counseling (including insights into disease phenotypes and progression) and offer valuable guidance for future clinical trial design and patient stratification. - Source: PubMed
Publication date: 2025/07/18
Michell-Robinson Mackenzie APerrier StefanieGauthier SamuelDerksen AlexaSabbagh QuentinGirbig MathiasMisiaszek Agata DPizzino Amy MRenaud Deborah LDe Assis Pereira DaniloOkuda PaolaKaroleska Luciana MaestriKeller StephanieChong KarenGauquelin LaurenceBrais BernardLeube BarbaraGrider TiffanyShy Michael ESchüle RebeccaMinnerop MartinaBertini EnricoNicita FrancescoTonduti DavideMüller Christoph WVanderver AdelineWolf Nicole IBernard Geneviève - Koala retrovirus (KoRV), a major pathogen of koalas, exists in both endogenous (KoRV-A) and exogenous forms (KoRV-A to I and K to M) and causes multiple disease phenotypes, including carcinomas and immunosuppression. However, the direct association between the different KoRV subtypes and carcinogenesis remains unknown. Differentially expressed gene (DEG) analysis of peripheral blood mononuclear cells (PBMCs) of koalas carrying both endogenous (KoRV-A) and exogenous (KoRV-A, B, and C) subtypes was performed using a high-throughput RNA-seq approach. PBMCs were obtained from three healthy koalas: one infected with endogenous (KoRV-A; Group I) and two infected with exogenous (KoRV-B and/or KoRV-C; Group II) subtypes. Additionally, spleen samples (n = 6) from six KoRV-infected deceased koalas (K1- K6) and blood samples (n = 1) from a live koala (K7) were collected and examined to validate the findings. - Source: PubMed
Publication date: 2024/10/30
Akter LipiHashem Md AbulKayesh Mohammad Enamul HoqueHossain Md ArjuMaetani FumieAkhter RupalyHossain Kazi AnowarRashid Md Haroon OrSakurai HirokoAsai TakayukiHoque M NazmulTsukiyama-Kohara Kyoko - The review article provides information about the features of the Varicella-zoster virus (VZV), about the clinical manifestations of CNS damage in acute and chronic VZV infection in children and adults, about the mechanisms of interaction of the pathogen with the immune system during the development of the disease. The question of whether to consider neurological disorders in VZV infection as a complication or manifestation of the disease caused by a defective virus or the presence of subclinical immunodeficiency is discussed, which is confirmed by modern scientific studies. 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 of the course, the identification of rare variants of the POLR3A, POLR3C, POLR3E and POLR3F genes associated with violation of IFNs induction, and the development of severe VZV infection, in which vasculopathy also occurs, which is the basis for the use of vascular drugs of complex action, such as Cytoflavin, the effectiveness of which has been proven by the authors. A special place is given to the analysis of intrathecal immunopathogenesis, which is likely to be associated with the presence and severity of neurological manifestations, their relapses. The issue of the causes of the development of a severe course of the disease in patients vaccinated against chickenpox, as well as the issue of resistance to specific antiviral drugs, probably associated with the presence of mutations responsible for the resistance of the virus to therapy, is discussed. - Source: PubMed
Skripchenko E YuZheleznikova G FSkripchenko N VAlekseeva L AGoleva O VBessonova T VZhirkov A A - RNA polymerase (Pol) III transcribes small untranslated RNAs such as 5S ribosomal RNA, transfer RNAs, and U6 small nuclear RNA. Because of the functions of these RNAs, Pol III transcription is best known for its essential contribution to RNA maturation and translation. 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 subunits are associated with susceptibility to varicella zoster virus-induced encephalitis and pneumonitis. In addition, an ever-increasing number of distinct mutations in the POLR3A, POLR3B, POLR1C and POLR3K subunits cause a spectrum of neurodegenerative diseases, which includes most notably hypomyelinating leukodystrophy. Furthermore, other rare diseases are also associated with mutations in genes encoding subunits of Pol III (POLR3H, POLR3GL) and the BRF1 component of the TFIIIB transcription initiation factor. Although the causal relationship between these mutations and disease development is widely accepted, the exact molecular mechanisms underlying disease pathogenesis remain enigmatic. Here, we review the current knowledge on the functional impact of specific mutations, possible Pol III-related disease-causing mechanisms, and animal models that may help to better understand the links between Pol III mutations and disease. - Source: PubMed
Publication date: 2021/07/30
Lata ElisabethChoquet KarineSagliocco FrancisBrais BernardBernard GenevièveTeichmann Martin