DKC1

Last update 08 May 2025

Basic Info

Synonyms

Cbf5, CBF5 homolog, DKC

+ [11]

Introduction

Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674, PubMed:32554502). This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1 (PubMed:25219674). Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance (PubMed:19179534, PubMed:25219674). Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme (PubMed:19179534). Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression.

100 Clinical Results associated with DKC1

100 Translational Medicine associated with DKC1

0 Patents (Medical) associated with DKC1

515

Literatures (Medical) associated with DKC1

01 Mar 2025·Annals of Hematology

Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility

Article

Author: Elbadry, Mahmoud I ; Seo, Go Hun ; Aziz, Shereen Philip ; Tawfeek, Ahmed ; Abdelkreem, Elsayed

AbstractThis study investigates the burden, phenotypes, progression, and outcomes of familial hematological malignancies (FHM) through clinical evaluation, gene panel testing, and whole exome sequencing, highlighting the significance of identifying genetic causes for personalized treatment. Over six years, 357 patients initially diagnosed with bone marrow failure (BMF) were evaluated, with 152 patients lacking identifiable causes undergoing further analysis. Among these, 53 (34.9%) exhibited features of inherited BMF syndromes, and 13 (24.5%) developed FHM. In a separate cohort of 27 patients with inherited immunodeficiency disorders, 8 (29.6%) developed FHM associated with NHEJ1 or LYST variants, underscoring the familial clustering of hematologic disorders. Notably, 6 of 7 patients from the same family (family-1) with homozygous NHEJ1 variants progressed to secondary myelodysplastic syndrome (sMDS), acute myeloid leukemia (AML), or lymphoma. Among 780 patients diagnosed with hematological malignancies during the study period, 45 (5.8%) were confirmed to have FHM, with 33 patients enrolled for detailed analysis. Of these, 16 (48.5%) had DNA-repair deficiencies (DNA-RD), including eight with Fanconi anemia, six with NHEJ1 variants, and two with BRCA2 mutations. The remaining 17 patients presented conditions such as familial myeloproliferative neoplasms, dyskeratosis congenita (DC) [TERT, DKC1 variants], and Chediak-Higashi syndrome. Two siblings (family-3) with a rare TERT variant and a unique DC phenotype developed sMDS after prolonged BMF. Patients with DNA-RD were younger and exhibited higher rates of growth failure, recurrent infections, and endocrinopathies. These cases frequently progressed to sMDS or AML. A comparative analysis of 319 individuals with DNA double-strand break repair deficiencies revealed a 45% frequency of hematological malignancies. Lymphoma was most common in Nijmegen breakage syndrome (79.4%) while MDS/AML was prevalent in Cernunnos deficiency (66.6%). The findings emphasize the importance of early diagnosis, genetic testing, and personalized management, including timely transplantation, to improve outcomes in FHM. This research underscores the need for clinical awareness and surveillance to facilitate timely interventions and mitigate disease progression.

14 Feb 2025·Science Advances

Squalene acts as a feedback signaling molecule in facilitating bidirectional communication between tea plants

Article

Author: Wang, Qiang ; Hu, Yutong ; Wang, Jingming ; Guo, Danyang ; Zhao, Mingyue ; Jin, Jieyang ; Zhang, Mengting ; Cui, Jilai ; Yu, Keke ; Song, Chuankui ; Liu, Yuantao ; Jing, Tingting ; Schwab, Wilfried ; Wang, Kai

Plants respond to environmental stimuli by releasing volatile organic compounds (VOCs), which play diverse roles in plant-to-plant interactions. Previous studies have primarily focused on how receiving plants respond. However, little is known about how these receivers communicate back to the emitter plants and their subsequent impacts. Our findings indicated increased plant tolerance when neighboring plants were present, suggesting bidirectional plant communication. Furthermore, we established a model to explore the role of signals from receiver plants, identifying squalene as a crucial feedback signal enhancing the cold tolerance in emitter plants by up-regulating CsCBF5 expression. Further analysis using yeast one-hybrid analysis coupled with inhibition of brassinosteroid pathways suggested that squalene-induced castasterone (CS) accumulation directly activated CsCBF5 expression modulated by CsBES1/BZR1 . Overall, these results demonstrated the role of the squalene-CS- BES1/BZR1 - CBF5 pathway in the bidirectional communication between plants, expanding our understanding of plant interactions.

01 Feb 2025·Acta Pharmacologica Sinica

G3BP2 promotes tumor progression and gemcitabine resistance in PDAC via regulating PDIA3-DKC1-hENT in a stress granules-dependent manner

Article

Author: Liu, Jiang ; Li, Bo-Rui ; Wang, Wei ; Qin, Yi ; Yu, Xian-Jun ; Fang, Ying-Jin ; Zhang, Bo ; Liang, Chen ; Xu, Jin ; Xing, Fa-Liang

Pancreatic ductal adenocarcinoma (PDAC) is distinguished by its aggressive malignancy, limited treatment avenues and a tendency towards chemotherapy resistance, underscoring the critical need for advanced research to uncover new therapeutic approaches. Stress granules (SGs) that is implicated in cellular self-protection mechanism, along with its associated family molecules have shown pro-cancer effects and are closely related to tumor chemotherapy resistance. In this study we investigated the relationship between Ras GTPase-activating protein-binding proteins 2 (G3BP2), a core component of SGs, and the malignancy of PDAC as well as its resistance to the chemotherapy drug gemcitabine. Analyzing TCGA dataset revealed that the expression of G3BP1 and G3BP2 was significantly upregulated in PDAC compared with adjacent normal pancreatic tissues, and the high expression of G3BP2 rather than G3BP1 was significantly associated with poorer overall survival (OS) in PDAC patients. We demonstrated that knockdown of G3BP2 inhibited the proliferation and invasion of PANC-1 and CFPAC-1 cells in vitro and in vivo. By analyzing the differentially expressed genes in G3BP2 knockdown and overexpressed PANC-1 cells, we identified DKC1 that was associated with RNA stability and regulation as the target of G3BP2. We demonstrated that G3BP2 bound to PDIA3 mRNA and recruited them into SGs, increasing the stability of PDIA3 mRNA and attenuating its translation efficiency, thereby promoting DKC1 expression. Furthermore, DKC1 could bind to hENT mRNA and inhibited its expression, which enhanced gemcitabine resistance of PDAC. Therefore, we propose a novel mechanism wherein G3BP2 facilitates PDAC's resistance to chemotherapy by modulating PDIA3-DKC1-hENT in a SGs-dependent way, suggesting G3BP2 SGs a protentional therapeutic target for the treatment in PDAC.

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DKC1

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