Ask about this productRelated genes to: POLR3A antibody
- Gene:
- POLR3A NIH gene
- Name:
- RNA polymerase III subunit A
- Previous symbol:
- -
- Synonyms:
- RPC1, RPC155, hRPC155
- Chromosome:
- 10q22.3
- Locus Type:
- gene with protein product
- Date approved:
- 2004-09-16
- Date modifiied:
- 2016-07-11
Related products to: POLR3A antibody
Related articles to: POLR3A antibody
- Atrial fibrillation (AF) is the most common cardiac arrhythmia. Although familial AF (FAF) frequently follows an autosomal dominant inheritance pattern, the genetic mechanisms remain incompletely defined. We sought to identify the causal variant within a previously established linkage region on chromosome 10q22-q24. - Source: PubMed
Publication date: 2026/06/09
Martínez-Moreno RebeccaPérez-Serra AlexandraShah GopiRoura ElisabetPujolàs Albert RigatIglesias AnnaDel Olmo BernatHong KuiRioux John DScornik Fabiana SPérez Guillermo JRoberts RobertBrugada Ramon - Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy. We describe a novel Pol III-related disorder caused by monoallelic variants in POLR3A and presenting primarily with peripheral neuropathy. - Source: PubMed
Publication date: 2026/06/08
Ramos Luiza L PParmar Jevin MWijngaard RobinGrosz Bianca RLazar TamasMateiu LigiaVucic SteveKumar Kishore RYeow DennisRudaks Laura Ide Boer Lonnekede Vreugd AnnemarieKoolen David AGardeitchik ThatjanaCairns AnitaIyengar KrishnanKok FernandoFigueiredo Fernanda Barbosade Siqueira Carvalho Alzira AlvesMageste Barbosa Luiz SArantes Rodrigo RezendeRehbein TylerBontrager Jordan EWood Elizabeth PSowden Janet EMonahan GavinKumaheri MeutiaCuijt IvyEllis MelinaPerez-Siles GonzaloMcNamara Elyshiavan Beek RonaldMeijers Celine BTournev IvayloZuchner StephanWodak Shoshana Jvan Karnebeek Clara D MLaing NigelSemcesen Liana NStroud David AHerrmann David NGuergueltcheva VelinaKennerson Marina LOud Machteld MRavenscroft GianinaCandayan AyseJordanova Albena - Transcription by RNA Polymerase III (Pol III) is essential for ribosome biogenesis and translation in all cells, but pathogenic variants in genes encoding subunits of Pol III lead to tissue-specific phenotypes including craniofacial differences. To understand the function of Pol III in craniofacial development, we examined polr3a mutant zebrafish. These mutants display hypoplasia of the neural crest cell-derived craniofacial cartilage and bone but, surprisingly, no significant changes were observed in neural crest cell proliferation or survival during embryogenesis. At larval stages, increased cell death was observed throughout the head, including in the craniofacial cartilage. These changes coincide with reduced transcription of transfer RNAs and reduced ribosome biogenesis in polr3a mutant zebrafish. To determine tissue-specific transcriptional changes, we performed single-cell RNA-sequencing. Analysis revealed both global and cartilage-specific changes, including upregulation of tp53. However, Tp53 inhibition alone was not sufficient to rescue craniofacial cartilage and bone, indicating that additional factors are important to support cartilage and bone growth in polr3a mutants. Altogether, our study provides new mechanistic insights into the functions of Pol III in craniofacial development. - Source: PubMed
Publication date: 2026/06/08
Lubash Bailey TGutierrez RoxanaHansen Nicole AFink KadeHopkins Colette ASands Lauren BNelson Jessica CWatt Kristin E N - The diagnosis of neurogenetic disorders is often prolonged due to clinical variability and significant genetic heterogeneity, making molecular diagnosis challenging. This study aimed to investigate the molecular basis of rare inherited neurological conditions in three consanguineous Moroccan families. - Source: PubMed
Publication date: 2026/05/11
Chentoufi Fatima EzzahraIdyahia AssiaToure MadoussouEl Hamouchi AdilBarakat AbdelhamidBenrahma HoudaCharoute Hicham - DNA-protein crosslinks (DPCs) are toxic DNA lesions that block all DNA transactions including replication and transcription, and the consequences of impaired DNA-protein crosslink repair (DPCR) are severe. At the cellular level, impaired DPCR leads to the formation of double strand breaks, genomic instability, and cell death, while at the organismal level, it is associated with cancer, aging, and neurodegeneration. Despite its importance, the mechanisms of DPCR at the organismal level are largely unknown. Proteases play a central role in DPCR, as they remove proteinaceous part of the DPCs, while the peptide remnant crosslinked to DNA is subsequently removed by other repair factors. We characterized the role of putative protease ACRC/GCNA (ACidic Repeat Containing/Germ Cell Nuclear Antigen) in DPCR at the organismal level. For this purpose, we have created new animal models with CRISPR/Cas system: two zebrafish lines with inactive Acrc. We were able to overcome the early embryonic lethality caused by Acrc inactivation by injecting Acrc-WT messenger RNA and have created a viable animal model to study the role of Acrc in adult tissues. We identified histone H3, topoisomerases 1 and 2, Dnmt1, Parp1, Polr3a, and Mcm2 as putative DPC substrates of Acrc. We have shown that Acrc is essential for vertebrate development, and that the mechanism behind it is DPC removal. - Source: PubMed
Otten CecileKutnjak MarinSupina-Pavic ChristinePranjic MarijaAnticevic IvanMedved VannaPopovic Marta