Ask about this productRelated genes to: POLR1D antibody
- Gene:
- POLR1D NIH gene
- Name:
- RNA polymerase I and III subunit D
- Previous symbol:
- -
- Synonyms:
- RPAC2, RPA16, RPO1-3, RPA9, MGC9850
- Chromosome:
- 13q12.2
- Locus Type:
- gene with protein product
- Date approved:
- 2003-04-01
- Date modifiied:
- 2018-03-06
Related products to: POLR1D antibody
Related articles to: POLR1D antibody
- The greyhound has been strongly selected for competitive racing. Here, we present the first comprehensive population genomic analysis of racing greyhounds (n = 54) in the context of 14 other dog breeds (n = 352) using 473K single nucleotide polymorphism (SNP) genotypes. Inbreeding in the greyhound (FROH = 0.47) was higher than in most other breeds, reflecting positive selection for athletic traits but also raising concerns about potential health impacts. Although very long runs of homozygosity (ROH) were less common in the greyhound than in some breeds, large ROH islands suggest that selection for advantageous traits is relatively recent. Genomic regions under strong selection overlapped with ROH islands on CFA2, CFA4, CFA9, CFA10, CFA25 and CFA28 and contained candidate genes with marked allele frequency differences relative to other breeds. Notably, the strongest selection signal overlapped with the longest ROH island, encompassing the SLC46A3, POLR1D, FLT3, SLC7A1, MTUS2, LHFPL6, USPL1 and USP12 genes that have biological functions in vision, craniofacial morphology, neurological adaptability and skeletal, cardiac and muscle biology, implicating them in shaping the greyhound's morphological and athletic phenotype. These results provide insights into the selection pressures in the racing greyhound, identifying key genomic regions and candidate genes that may underlie racing capabilities, and importantly for animal welfare, provide a framework for managing inbreeding to optimize health and performance for future generations. - Source: PubMed
Han HaigeBlackett Tiffany ACampbell Madeleine L HHoltby Amy RebeccaMcGivney Beatrice AHill Emmeline Wynne - Minor glomerular abnormalities (MGAs) are histopathologically heterogeneous renal lesions with subtle structural changes and latent clinical manifestations, yet their molecular mechanisms remain poorly characterized and underexplored. - Source: PubMed
Publication date: 2026/02/13
Li LingLing YingyingCai FeiZhong YiYang HaoLiu FangLi GuisenXie XinfangSingla Rajeev KMa DengyanZhang Yong - Treacher Collins syndrome (TCS) is a rare disorder within the group of mandibulofacial dysostoses, occurring in 1 in 50,000 live births. It is characterized by anomalies in the maxillary, mandibular, and stapes bones, among others. TCS is caused by pathogenic variants in the , , , and genes with autosomal dominant or recessive inheritance patterns. Genetic data from Latin American populations remain scarce. Eleven patients from three different families were recruited. Whole-exome sequencing (WES) was performed on the probands to identify genetic variants, followed by Sanger sequencing for variant validation and familial segregation analysis. Finally, three-dimensional protein structures of wild-type and mutant proteins were predicted. In Family 1, a heterozygous pathogenic splice-site variant in the gene, c.4345 + 1 G > A, was identified and inherited from her mother. In Family 2, a heterozygous pathogenic variant in the gene, c.226_227insC (p.R77fs), was identified and inherited from the paternal lineage. In Family 3, a heterozygous pathogenic variant, c.290_291delAG (p.G99fs), was identified among multiple affected relatives; direct parent-of-origin could not be established due to unavailability of one parent, but segregation supports autosomal dominant transmission across three generations. All findings were validated by Sanger sequencing. Our findings highlight the utility of WES for the molecular diagnosis of TCS and underscore the importance of including underrepresented populations in genetic studies to improve diagnosis, genetic counseling, and perinatal planning in at-risk pregnancies. - Source: PubMed
Publication date: 2026/02/16
Camarillo-Benitez SaulMendez-Catala Claudia FabiolaChima-Galan Maria Del CarmenRivera-Yañez Claudia RebecaNegrete-Torres NancyArrieta Teyda AnaidAlcantara-Torres Julio RaulMéndez-Cruz Adolfo RenéMendoza-Ramos María IsabelTapia-Soto Norma IlianaGarrido EfraínPedroza-Gonzalez AlexanderGarcia-Romo Gina StellaReyes-Reali JuliaSoto-Rojas Luis OPozo-Molina GlusteinAmato Dante - Treacher Collins syndrome type 2 (TCS2; OMIM# 613717) is a rare genetic disorder of craniofacial development caused by pathogenic variants in the POLR1D gene. The characteristic clinical features include downward-slanting palpebral fissures, micrognathia, hypoplastic zygomatic arches, lower eyelid coloboma, and malformations of the external and middle ears. - Source: PubMed
Publication date: 2025/12/27
Zhu HuiDu MinZhu ShuyaoHuang YuZeng LanKuai YuXiong FuPang Ying - - Source: PubMed
Publication date: 2025/12/05
Wang XihanJia FenglinZhang BoLiu ShanlingWang HeChen JingXiao Yuanyuan