Ask about this productRelated genes to: POLR1E antibody
- Gene:
- POLR1E NIH gene
- Name:
- RNA polymerase I subunit E
- Previous symbol:
- PRAF1
- Synonyms:
- FLJ13390, PAF53, FLJ13970
- Chromosome:
- 9p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-07-11
- Date modifiied:
- 2016-10-05
Related products to: POLR1E antibody
Related articles to: POLR1E antibody
- Identifying biological and clinical factors associated with response to mood-stabilizing medications is critical for improving bipolar disorder (BD) treatment. The Mood Stabilizer Genomics (MoStGen) Consortium was established to investigate pharmacogenomic and clinical predictors of response to treatment of BD with antiepileptic drug mood stabilizers (AMS). Here we present the first pharmacogenomic analyses of AMS treatment outcomes based on MoStGen Consortium data, including 917 individuals across contributing sites. We performed genome-wide association analyses in subcohorts followed by meta-analyses, with AMS treatment response measured quantitatively using the Alda scale. Medication-stratified analyses were performed for valproic acid (VPA) and lamotrigine (LTG) treatment response. Additionally, polygenic score (PGS) analyses were used to evaluate the overall genetic contribution to AMS response across cohorts and to test whether genetic liability for various neuropsychiatric illnesses impacts AMS response. We detected genome-wide significant associations with LTG treatment response for SNPs in the gene ROBO2 (top SNP: rs985123, p = 1.9E-10) and for POLR1E at the gene-level (p = 2.53E-06). No significant associations were found for overall AMS or VPA treatment response. Leave-one-out PGS analyses provided significant evidence for a polygenic signal for AMS treatment response. Furthermore, the epilepsy PGS was nominally significantly associated with AMS response (p = 0.024), suggesting higher genetic liability to epilepsy predicts a better response to treatment with AMS. These findings provide insights into the genetic contribution to AMS treatment outcomes, and in particular LTG response, and may contribute to the development of more precise treatments for BD. - Source: PubMed
Publication date: 2026/02/19
Ho Ada Man-ChoiCoombes Brandon JBatzler AnthonyPazdernik Vanessa KPendegraft Richard SSkime MichelleBendjemaa NarjesCarpiniello BernardoContu MartinaDalkner NinaFellendorf Frederike TFico GiovannaFullerton Claudio DGardea-Resendez ManuelGonzalez-Garza SaraiJaafari NematollahJiménez EstherKebir OussamaLegrand AdrienLuna-Garza SofiaMeloni AnnaMillet BrunoMouaffak FayçalNunes AbrahamO'Donovan ClaireParibello PasqualePinna MarcoPisanu ClaudiaPomarol-Clotet EdithRomo-Nava FranciscoSánchez Raúl FScott KatieSquassina AlessioVilella ElisabetSerretti AlessandroPrieto Miguel LReininghaus Eva ZBengesser Susanne ACuellar-Barboza Alfredo BKrebs Marie-OdileChaumette BorisVieta EduardManchia MirkoMcElroy Susan LAlda MartinFrye Mark ABiernacka Joanna M - Hodgkin lymphoma (HL) is a heterogenous lymphoproliferative disorder of B-cell origin and represents one of the most common malignancies in children and young adults. In addition to well-known underlying factors - such as Epstein-Barr virus infection - the familial aggregation demonstrated in large population studies suggested a genetic predisposition. First-degree relatives of patients with HL have an approximately threefold increased risk of developing the disease compared to the general population. These observations have recently prompted several whole-genome studies in affected families, identifying variants possibly implicated in lymphomagenesis, including alterations in (a member of the ribonuclease III family), protection of telomeres 1), (kinase insert domain receptor), (kelch domain-containing protein 8B), (paired box protein 5), ( binding protein 3), (interferon regulatory factor 7) (eukaryotic elongation factor 2 lysine methyltransferase), and (RNA polymerase I subunit E). In this article, we review current insights into the etiopathogenesis and risks of familial HL, and present case reports involving two sisters diagnosed with HL nearly 17 years apart. Recognizing the risk for first-degree relatives may potentially increase awareness of early symptoms among family members of HL patients, leading to earlier diagnosis and better outcomes. Conversely, understanding that the hereditary risk, though higher than in the general population, remains relatively low may provide reassurance for affected families. - Source: PubMed
Roganovic JelenaMatijasic Stjepovic NusaDordevic Ana - The application of genetic and biochemical techniques in yeast has informed our knowledge of transcription in mammalian cells. Such systems have allowed investigators to determine whether a gene was essential and to determine its function in rDNA transcription. However, there are significant differences in the nature of the transcription factors essential for transcription by Pol I in yeast and mammalian cells, and yeast RNA polymerase I contains 14 subunits while mammalian polymerase contains 13 subunits. We previously reported the adaptation of the auxin-dependent degron that enabled a combination of a "genetics-like" approach and biochemistry to study mammalian rDNA transcription. Using this system, we studied the mammalian orthologue of yeast RPA34.5, PAF49, and found that it is essential for rDNA transcription and cell division. The auxin-induced degradation of PAF49 induced nucleolar stress and the accumulation of P53. Interestingly, the auxin-induced degradation of AID-tagged PAF49 led to the degradation of its binding partner, PAF53, but not vice versa. A similar pattern of co-dependent expression was also found when we studied the non-essential, yeast orthologues. An analysis of the domains of PAF49 that are essential for rDNA transcription demonstrated a requirement for both the dimerization domain and an "arm" of PAF49 that interacts with PolR1B. Further, we demonstrate this interaction can be disrupted to inhibit Pol I transcription in normal and cancer cells which leads to the arrest of normal cells and cancer cell death. In summary, we have shown that both PAF53 and PAF49 are necessary for rDNA transcription and cell growth. - Source: PubMed
Publication date: 2023/06/24
McNamar RachelFreeman EmmaBaylor Kairo NFakhouri Aula MHuang SuiKnutson Bruce ARothblum Lawrence I - Alzheimer's disease (AD) causes a decline in cognitive function that poses a significant hazard to human health. However, the exact pathogenesis of AD and effective treatment have both proven elusive. Circular RNAs (circRNAs), which were initially deemed as meaningless non-coding RNAs, have been shown to participate in a variety of physiological and pathological processes. However, the variations and characteristics of circRNAs are not fairly well understood during the occurrence and development of AD. - Source: PubMed
Publication date: 2022/11/17
Sun TingZeng LiCai ZhongdiLiu QingshanLi ZhuorongLiu Rui - Glioblastoma (GBM) is the most common and deadly primary brain tumor in adults. Diagnostic and therapeutic challenges have been raised because of poor prognosis. Gene expression profiles of GBM and normal brain tissue samples from GSE68848, GSE16011, GSE7696, and The Cancer Genome Atlas (TCGA) were downloaded. We identified differentially expressed genes (DEGs) by differential expression analysis and obtained 3,800 intersected DEGs from all datasets. Enrichment analysis revealed that the intersected DEGs were involved in the MAPK and cAMP signaling pathways. We identified seven different modules and 2,856 module genes based on the co-expression analysis. Module genes were used to perform Cox and Kaplan-Meier analysis in TCGA to obtain 91 prognosis-related genes. Subsequently, we constructed a random survival forest model and a multivariate Cox model to identify seven hub genes (KDELR2, DLEU1, PTPRN, SRBD1, CRNDE, HPCAL1, and POLR1E). The seven hub genes were subjected to the risk score and survival analyses. Among these, CRNDE may be a key gene in GBM. A network of prognosis-related genes and the top three differentially expressed microRNAs with the largest fold-change was constructed. Moreover, we found a high infiltration of plasmacytoid dendritic cells and T helper 17 cells in GBM. In conclusion, the seven hub genes were speculated to be potential prognostic biomarkers for guiding immunotherapy and may have significant implications for the diagnosis and treatment of GBM. - Source: PubMed
Publication date: 2022/08/12
Zhang YesenFan HuashengZou ChunWei FengSun JiweiShang YuchunChen LiechunWang XiangyuHu Beiquan