Ask about this productRelated genes to: CRSP6 antibody
- Gene:
- MED17 NIH gene
- Name:
- mediator complex subunit 17
- Previous symbol:
- CRSP6
- Synonyms:
- CRSP77, TRAP80, DRIP80, SRB4
- Chromosome:
- 11q21
- Locus Type:
- gene with protein product
- Date approved:
- 1999-07-21
- Date modifiied:
- 2017-06-12
Related products to: CRSP6 antibody
Related articles to: CRSP6 antibody
- MED14 is the largest subunit in the Mediator complex and plays a key role in regulating RNA polymerase II-mediated transcription, but its developmental function remains largely unknown. Here, we show that is required for the proper formation of multi-organs, including the heart, pectoral fin, vertebrae, cloaca, and pronephros, most of which are derived from the mesoderm and are generally affected by VACTERL association, a syndrome with higher prevalence in males. Using this animal model, we further demonstrated that failures in cell fate decisions during organogenesis, but not in early mesoderm formation and subsequent medio-lateral patterning, were the cause of the multi-organ malformations. Importantly, we identified a novel missense mutation in the gene (p.Ile550Val) located on the X chromosome in a patient and his family, and neonatal mice carrying the corresponding mutation displayed diagnostic features of VACTERL association. Further investigation revealed that this mutation impairs the structural role of MED14 in the recruitment of specific subunits, such as MED7 and MED17, to the Mediator complex, thereby compromising the interaction between the Mediator complex and RNA polymerase II and decreasing the expression of a set of downstream genes required for the organogenesis of VACTERL-related systems. Taken together, our work uncovers an essential role of MED14 in fetal organogenesis and provides mechanistic insights into the connection between VACTERL association and the Mediator complex. - Source: PubMed
Publication date: 2025/07/24
Liu JingwenLiu XuelaiLi FeifeiWang YujieYang LipingZhang MeijiaHe XinyuZhang TingZhang Ying YiWang Qiang - Environmental temperature significantly influences the evolutionary adaptation of poultry, while abdominal fat deposition represents a crucial economic trait affecting feed conversion efficiency and carcass quality. However, reports on the genetic mechanisms governing their co-evolutionary trade-offs remain scarce. This study employed whole-genome resequencing data from 469 chickens across 31 varieties. Through comparative analyses of heat- versus cold-adapted groups and high- versus low-fat groups, structural variations (SVs) were utilized as genetic markers. Selection signatures were identified via the population differentiation index () and nucleotide diversity ratio (π ratio). We identified 103 overlapping genes located within significantly differentiated SVs at the intersection of temperature adaptation and fat deposition. Pathway analysis revealed significant enrichment in the thyroid hormone signaling pathway, pinpointing as a key selection target. Further validation via PCR genotyping in the heat-tolerant Wenchang chicken revealed that individuals harboring the mutation exhibited significantly higher abdominal fat deposition than those without. These results suggest that is associated with fat deposition in heat-tolerant Wenchang chickens, serving as a potential candidate gene for this trait, providing robust molecular markers for breeding novel strains with both thermotolerance and superior carcass traits. - Source: PubMed
Publication date: 2026/08/05
Sun YuGu LihongChen ShihaoCai DanfengZhou ZhenLi JiahaoSang ZiyuWei ShenghuaNie QinghuaZhang Dexiang - This study investigates the interplay between host genetics and gut microbiota in regulating fat deposition and reproductive outcomes in sows. Integrating multiomics data from 348 Yorkshire sows-including whole-genome sequencing, 16S rRNA sequencing, and metabolomic profiling-we identified 37 microbial taxa significantly associated with thick backfat (TBP) through microbiome-wide association studies (MWAS). Microbial genome-wide association analysis (mGWAS) revealed heritable genera, including Ezakiella and Corynebacterium, and implicated host genes such as MED17 and VSTM5 in microbial modulation. Concurrently, genome-wide association studies (GWAS) identified MC4R and MEDAG as candidate genes directly influencing TBP. Metabolomic analysis highlighted acetate, a short-chain fatty acid, as a key mediator in host adipogenesis. Functional validation in experimental models demonstrated that exogenous acetate supplementation alters lipid metabolism and enhances reproductive performance. These findings elucidate a mechanistic axis wherein host genetics shape gut microbial composition, which in turn modulates fat metabolism via acetate production, ultimately affecting pregnancy outcomes. This integrated approach provides insights into host-microbe co-regulation of metabolic traits and highlights potential targets for improving reproductive efficiency in livestock. - Source: PubMed
Publication date: 2026/05/27
Wang MingyuZhang LinLi SongbaiCha ErqiGuo AoSun BoyuanLi XinjianWu ShengruYu Taiyong - Critical-sized cranial defects present a significant challenge in the field of bone tissue regeneration. Despite the emergence of various approaches to promote new bone formation, the clinical outcomes remain suboptimal. In this study, we developed an inorganic-organic hybrid bioink suitable for 3D printing of photocurable scaffolds. This bioink incorporates our novel nanocapsules with a shell consisting of amorphous whitlockite and PEG coating, which endows the scaffolds with superior mechanical strength and pro-osteogenic capacity. These nanocapsules enable a dual-phase Mg release profile to facilitate the initial pro-inflammatory activation of human THP-1-derived macrophages and their seamless transition to a pro-regenerative phenotype. We further showed that this dynamic Mg delivery strategy significantly outperformed traditional sustained-release approaches in supporting cranial bone regeneration in a rat critical-sized cranial defect model. Moreover, with evidence from trigeminal ganglia in rat model and in vitro studies using MED17.11-derived sensory neurons, we showed the controlled immunomodulation through this tailored Mg delivery more closely mimics the natural healing process, promoting the activation of sensory nerves, which is essential for effective bone regeneration. Overall, our study demonstrated the potential of our nanocapsules as a cost-effective approach for the dynamic modulation of the immune-neural axis, offering valuable insights for the future design of bioactive materials for cranial bone regeneration. - Source: PubMed
Publication date: 2026/05/20
Mao YilinHe QixuanLi TianleGuo JiusiWu YefengYeung Kelvin W KSu YuxiongShen JieHan XianglongWang JianQiao Wei - The Mediator (MED) complex is an essential regulator of RNA polymerase II transcription. There is increasing evidence that pathogenic variants in several MED subunits are the cause of neurodegenerative and neurodevelopmental phenotypes, collectively referred to as "MEDopathies". This review aims to summarize current knowledge on the genetic basis, clinical manifestations, and neuroradiological features of MED-related disorders. We undertook a narrative synthesis of the literature focusing on the MED subunits most commonly associated with neurological disorders, including MED1, MED8, MED11, MED12/MED12L, MED13/MED13L, MED14, MED17, MED20, MED23, MED25, MED27, and CDK8. Sources included peer-reviewed genetic, clinical, and imaging studies, supplemented by relevant case reports and cohort analyses. In addition, representative facial phenotypes associated with selected MED variants () were visualized for educational purposes using artificial intelligence-based image generation derived from standardized clinical descriptors. : All MEDopathies show converging clinical patterns: global developmental delay/intellectual disability, hypotonia, epilepsy, speech disorders, and behavioral comorbidity. Non-neurological involvement, such as craniofacial or cardiac anomalies, is subunit-specific. Neuroradiological features include callosal abnormalities (agenesis, thinning, dysmorphia), delayed or hypomyelination, progressive cerebral and cerebellar atrophy, basal ganglia signaling changes, pontine hypoplasia, and, in deficiency, a "hot cross bun" sign. Gene-specific constellations emphasize catastrophic infantile progression (), X-linked syndromes with callosal defects (), language-dominant phenotypes (), and syndromic intellectual disability with systemic features (). : The growing spectrum of MEDopathies argues for their recognition as a unified nosological group with overlapping clinical and radiological signatures. Characteristic MRI constellations may serve as diagnostic clues and guide targeted molecular testing. Future directions include longitudinal imaging to describe disease progression and the integration of genomic data with curated clinical radiological datasets to refine genotype-phenotype correlations. - Source: PubMed
Publication date: 2025/12/02
Fazio AlessandroLeonardi RobertaAliotta LorenzoLo Bianco ManuelaAnastasio GennaroMessina GiuseppeSpatola CorradoFoti Pietro ValerioPalmucci StefanoBasile AntonioRuggieri MartinoDavid Emanuele