Ask about this productRelated genes to: DKC1 Blocking Peptide
- Gene:
- DKC1 NIH gene
- Name:
- dyskerin pseudouridine synthase 1
- Previous symbol:
- DKC
- Synonyms:
- XAP101, dyskerin, NAP57, NOLA4, Cbf5
- Chromosome:
- Xq28
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2019-04-23
Related products to: DKC1 Blocking Peptide
Related articles to: DKC1 Blocking Peptide
- The immunomodulatory properties of exogenous mesenchymal stem cells (MSCs) have been the target of research in immune-mediated diseases and organ transplants. However, the altered microenvironment decrease MSCs capabilities and survival post-transplantation. This study investigated the viability, proliferation, gene expression and proteomic of canine adipose tissue-derived MSCs (cAT-MSCs) treated with deferroxyamine [DFO] (hypoxia), interferon-γ [IFN-γ] (inflammation) or both for 48h. At 24 hours, all groups exhibited fibroblastoid morphology and adhesion to plastic, with treated groups showing greater cell spacing. After 144h, cell proliferation did not differ significantly between groups, though the treated groups had higher cell concentrations compared to the control. Gene expression analysis revealed increased Casp9 expression in the IFN-γ group, in comparison to the IFN-γ + DFO group; the FGF2 gene was upregulated in the IFN-γ group, while the DKC1 and PT53 genes showed higher expression in IFN-γ than DFO. The VEGFA was more highly expressed in the groups treated with DFO. Proteomics analysis identified 256 proteins, with 70 co-expressed across all groups, and unique proteins in each treatment group: 41 in the control, 44 in DFO, 15 in IFN-γ + DFO group, and 34 for IFN-γ. Notably, 6, 5, and 4 proteins were unique to DFO, IFN-γ + DFO, and IFN-γ treatments, respectively, when compared to the control. Preconditioning modulated angiogenic and metabolic pathways, preserving immunomodulatory function and cellular integrity. Future studies with real hypoxia and multi-omics integration will be crucial for linking molecular signatures to paracrine functions and in vivo efficacy. - Source: PubMed
Publication date: 2026/03/23
Ocampo-Ortiz PabloVallejo-Aristizabal VivianaCarvalho Marcos GomidesStuart Joshua PolancoDellaqua ThaisyLandim E Alvarenga Fernanda da Cruz - Dyskerin, encoded by the dyskerin pseudouridine synthase 1 (DKC1) gene, is a core component of the H/ACA ribonucleoprotein complex and plays essential roles in telomerase activity maintenance, rRNA pseudouridylation, and ribosome biogenesis. Loss of DKC1 function represents a major pathogenic basis of dyskeratosis congenita (DC) and is associated with a markedly increased risk of malignancy, particularly head and neck squamous cell carcinoma and oral squamous cell carcinoma. Traditionally, cancer susceptibility in DC has been largely attributed to telomere shortening and the resulting genomic instability; however, this explanation does not fully account for the heterogeneity observed across different genetic subtypes and clinical phenotypes. In this review, we systematically integrate three key mechanisms through which dyskerin dysfunction contributes to DC-associated carcinogenesis: disruption of telomere homeostasis, defects in selective translation regulation dependent on RNA pseudouridylation, and progressive impairment of T-cell-mediated immune surveillance. We highlight how DKC1 deficiency leads to insufficient rRNA pseudouridylation, selectively affecting the translation of internal ribosome entry site (IRES)-dependent transcripts, thereby attenuating the stress-induced expression of critical tumor suppressor proteins. In parallel, evidence from patient cohort studies is discussed to support a potentially dominant role of immunodeficiency in tumor development. Finally, we propose that future studies on DC and short telomere syndromes should emphasize genetic stratification and long-term clinical outcomes to refine cancer risk assessment and optimize preventive and therapeutic strategies. - Source: PubMed
Publication date: 2026/02/25
Xie YihangXue NingningXue LinZeng XinWang JiongkeZhang Xuefeng - Idiopathic Pulmonary Fibrosis (IPF) is a progressive, age-related, and distinct form of fibrosing interstitial pneumonia with an unknown etiology. Previous studies have indicated that mutations in the () gene are associated with the development of IPF. This study aims to investigate mutations in Chinese patients with interstitial lung diseases (ILDs). A total of 124 ILD patients were enrolled in this study. Whole exome sequencing and Sanger sequencing were performed to identify genetic variants in these individuals. Mutant plasmids were constructed and transfected into the A549 cell line to conduct functional assays. Among the 124 patients, two novel mutations (c.884G>A/p.S295N and c.1074C>G/p.H358Q) were identified in two Chinese families with a history of IPF. Functional analyses revealed that both mutations compromise the stability of the TPP1 protein, leading to reduced TPP1 expression. This downregulation subsequently decreases DKC1 expression, ultimately resulting in telomere shortening and contributing to IPF pathogenesis. To the best of our knowledge, this study represents the first report of mutations in an Asian population with IPF. Our findings broaden the mutation and population spectrum of ACD deficiency. - Source: PubMed
Publication date: 2026/02/25
Cao Gao-HuiYang HuiWang QianLuo HongFan Liang-LiangLiu Lv - Dyskeratosis congenita (DC) is a rare, inherited bone marrow failure syndrome resulting from mutations in genes responsible for telomere maintenance. We report a familial case of DC in two brothers, who exhibited the classic diagnostic triad of reticulate skin pigmentation, oral leukoplakia, and nail dystrophy. Genetic analysis identified a rare, hemizygous missense mutation (c.92A>C, p.Gln31Pro) in the DKC1 gene. This case underscores the variable expressivity of DKC1 mutations and reinforces the importance of recognizing the characteristic mucocutaneous features for timely diagnosis and management of this multisystem disorder. - Source: PubMed
Publication date: 2026/03/04
Deng XianheGuo ZiyuChen PancunNiu Mu - Multiple myeloma (MM) is an incurable plasma cell malignancy. Dyskerin pseudouridine synthase 1 (DKC1), a nucleolar protein, is essential for RNA modification and cellular homeostasis, yet its role in MM remains unclear. - Source: PubMed
Publication date: 2026/03/04
Sun ChenxiCheng LinLi AiHan YanxiaoWang YongjingXiao JuanGuo YananZhang WentingSun LikunXu DaweiKong DexiaoJiang YangZheng Chengyun