Ask about this productRelated genes to: POLR3K antibody
- Gene:
- POLR3K NIH gene
- Name:
- RNA polymerase III subunit K
- Previous symbol:
- -
- Synonyms:
- RPC11
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2000-12-21
- Date modifiied:
- 2016-07-11
Related products to: POLR3K antibody
Related articles to: POLR3K antibody
- Background Obesity is caused by genetics, the environment (e.g., diet) and their interactions. The brain, specifically the hypothalamus, plays an important role in obesity, but controlled studies using human brain tissue are not possible. The goal of this study was to conduct a genome wide association study using outbred heterogeneous stock (HS) rats to map genetic loci associated with diet-induced obesity. This was followed by RNAseq in the ventromedial hypothalamus (VMH) to identify candidate causal obesity genes. Methods We measured multiple metabolic traits (including fat and lean mass, fasting glucose, insulin, and lipids, glucose tolerance, food intake and activity levels) after long-term consumption of a low-fat (LFD) or high-fat diet (HFD) in 2000 HS rats, split equally by sex and diet. Rats were genotyped using low-coverage whole genome sequencing. RNAseq data was obtained from the VMH of a sub-set of 400 HS rats split equally by sex and diet. We used linear mixed models to detect physiological and expression quantitative trait loci (pQTLs and eQTLs, respectively) in the full dataset and separately by diet and sex. Genes with cis-eQTLs that overlapped pQTLs were assessed as candidate causal genes through mediation analysis. We also identified VMH genes differentially expressed by diet in both sexes, followed by pathway analysis. Results We identified 47 pQTLs where six mapped multiple traits, 11 were diet-specific and 13 were sex-specific. We identified nine candidate causal genes, including , and within a pleiotropic pQTL for multiple adiposity traits on rat chr. 6 and within a pQTL for fat pad weight on rat chr. 9. We also identified as a candidate gene within a LFD-specific pQTL for activity levels and and within a male-specific pQTL for fatty liver. Genes involved in extracellular matrix and inflammation were dysregulated by diet, particularly in females, while males on HFD showed upregulation of several addiction pathways. Conclusions We identified novel candidate genes as neural regulators of diet-induced obesity and related traits and confirmed the importance of accounting for diet and sex in genetic studies of obesity. - Source: PubMed
Publication date: 2026/05/22
Hong-Le ThuMcGee TeresaSeshie OsborneBui TrangdaiGiorgio GinaBeeson AngelaJohnson BenjaminAng GraciePolesskaya OksanaPalmer AbrahamValdar WilliamMott RichardWoods Leah Solberg - Normal pregnancy involves the modulation of thousands of maternal plasma proteins, and protein values not within the normal range may indicate the development of adverse pregnancy outcomes. A decrease in placental growth factor and an increase in soluble fms-like tyrosine kinase 1 in maternal plasma were shown to be associated with fetal death at the time of diagnosis and to predict this devastating pregnancy outcome at 24 to 28 weeks of gestation. However, these proteomic dysregulations are also present in other obstetrical syndromes, and more specific and sensitive biomarkers are needed to implement preventive strategies. - Source: PubMed
Publication date: 2026/04/02
Romero RobertoBhatti GauravChaiworapongsa TinnakornGomez-Lopez NardhyMeyyazhagan ArunChaemsaithong PiyaJung EunjungAwonuga Awoniyi OKim Yeon MeeGudicha Dereje WKim Chong JaiBryant David RHassan Sonia STarca Adi L - Hypomyelinating leukodystrophies (HLDs) are rare genetic neurodevelopmental disorders characterized by defective myelin formation. The genetic cause of these disorders has been ascribed to mutations in genes encoding myelin protein components, such as proteolipid protein 1 (PLP1) and myelin basic protein (MBP), or in genes encoding for transcription and translation-related proteins. Particularly, biallelic pathogenic variants in POLR3A, POLR3B, POLR3K, POLR3D, POLR1C lead to the insurgence of RNA Polymerase III (Pol III)-related HLDs (POLR3-HLDs). The molecular mechanisms linking Pol III dysfunction to hypomyelination remain largely elusive, though the main hypothesis is that impaired Pol III activity likely disrupts gene expression and cellular homeostasis processes critical for myelin development and lipid metabolism. - Source: PubMed
Publication date: 2026/02/04
Rey FedericaCasamassa AlessiaDi Cristofano SamueleEsposito LetiziaSoriano Amata AmyMessa LetiziaBerardo ClarissaHazrati MahsaFerrone IlariaBonnet MaximeBruschi FabioVaia YleniaMarano MassimoBertini EnricoNicita FrancescoTonduti DavideZuccotti GianvincenzoVescovi Angelo LuigiRaimondo DomenicoRosati JessicaCarelli StephanaCereda Cristina - After long-term artificial selection and lineage mixing, the Danish Landrace pig (DLR), has developed characteristics such as a long body length, high lean meat rate, rapid growth rate, high litter size, and a longer gestation period, with an average gestation length of 117 days. However, the genes responsible for these desirable traits remain partly unknown. According to the breeding history of DLR pigs, it has undergone introgression from British Large White pigs (BLW), selection for high lean meat rate and long body length within the population, and a rapid improvement in reproductive performance since 1992. Research on Danish Duroc and Large White pigs has detected that the lineage of pigs in Taihu Lake region (TL) has introgressed into these two breeds. Therefore, we performed resequencing and chip scanning on 106 TL pigs and 557 DLR pigs, and downloaded 163 resequencing data from Eurasian pigs for shared haplotype analysis, selective sweep analysis, and GWAS. - Source: PubMed
Publication date: 2025/09/29
Chen JianmeiHuang RuihuaMa JinfengSu GuoshengHuang MinZhou WuduoLiu ChenxiLiu QianLi PinghuaZhao Qingbo - 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