Dyskerin gene functional study

Dyskerin - an overview | ScienceDirect Topics

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The dyskerin gene, an X-linked gene, was first identified through familial linkage analysis in patients with DC [47], a disease characterized by the premature failure of proliferative tissues, notably bone marrow failure. Mutations in dyskerin lead to the most severe cases of DC, with patients having a life expectancy of less than 20 years [48].

Dyskerin - an overview | ScienceDirect Topics

OMIM Entry - * 300126 - DYSKERIN; DKC1

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The gene product, referred to as dyskerin, contains 2 TruB pseudouridine synthase motifs, multiple phosphorylation sites, and a carboxy-terminal lysine-rich domain. By analogy to the function of known dyskerin orthologs, Heiss et al. (1998) predicted that dyskerin is …

OMIM Entry - * 300126 - DYSKERIN; DKC1

Dyskerin expression correlates with active proliferation ...

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Dyskerin, which is an important component of the telomerase complex and is needed for normal telomerase activity, is frequently overexpressed in neoplasia. Dyskerin also plays an essential role in ribosome biogenesis. Since protein synthesis increases during tumorigenesis, this …

Dyskerin expression correlates with active proliferation ...

Dyskerin Overexpression in Human Hepatocellular Carcinoma ...

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A recent study has indicated that the human DKC1 gene encodes a new alternatively spliced mRNA that can direct the synthesis of a variant form of dyskerin that has an unexpected cytoplasmic localization . In our study, dyskerin staining was localized mainly in the nuclei of …

Dyskerin Overexpression in Human Hepatocellular Carcinoma ...

MYC-Driven Neuroblastomas Are Addicted to a Telomerase ...

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6/15/2016 · The RNA-binding protein dyskerin, encoded by the DKC1 gene, functions as a core component of the telomerase holoenzyme as well as ribonuclear protein complexes involved in RNA processing and ribosome biogenesis. The diverse roles of dyskerin across many facets of RNA biology implicate its potential contribution to malignancy. In this study, we examined the expression and …

MYC-Driven Neuroblastomas Are Addicted to a Telomerase ...

Dyskerin Overexpression in Human Hepatocellular ... - PLOS

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Background Dyskerin (encoded by the DKC1 gene) is an essential nucleolar protein involved in cell proliferation, where it is required for the pseudo-uridylation of ribosomal RNA (rRNA) molecules and the stabilization of the telomerase RNA component. Dyskerin expression has been reported to predict poor survival in some cancer patients. The aim of the present study was to analyze the expression ...

Dyskerin Overexpression in Human Hepatocellular ... - PLOS

Novel Dyskerin-Mediated Mechanism of p53 Inactivation ...

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6/1/2010 · In this study, we show that impairment of dyskerin function can cause p53 inactivation due to a defect in p53 mRNA translation. siRNA-mediated reduction of dyskerin levels caused a decrease of p53 mRNA translation, protein levels, and functional activity, both in human breast cancer cells and in primary mammary epithelial progenitor cells.

Novel Dyskerin-Mediated Mechanism of p53 Inactivation ...

Are snoRNAs and snoRNA host genes new players in cancer ...

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1/19/2012 · A recent study 27 focused on SNORA42, ... Mutations in the dyskerin gene ... A functional expression cloning screen for genes that can regulate cell death and survival 14 identified the snoRNA ...

Are snoRNAs and snoRNA host genes new players in cancer ...

Dyskerin expression influences the level of ribosomal RNA ...

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Dyskerin gene silencing in the MCF-7 human breast carcinoma cell line reduced telomerase activity and rRNA pseudo-uridylation. Significantly, patients with low dyskerin expression were characterized by a better clinical outcome than those with a high dyskerin level.

Dyskerin expression influences the level of ribosomal RNA ...

A functional connection between dyskerin and energy ...

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In our previous study, we showed that a truncated dyskerin variant, named Isoform 3 (hereafter called Iso3) retained all dyskerin functional domains, with the exception of the C-terminal bipartite nuclear localization signal (NLS) (see Fig. 1A), and displayed a peculiar subcellular localization, being predominantly cytoplasmic .

A functional connection between dyskerin and energy ...

Mutant Dyskerin Ends Relationship with Telomerase | Science

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The sequence homology between dyskerin and yeast Cbf5p , together with the phenotype associated with a lack of Cbf5p , led to the proposal that DKC is a disorder of ribosome production . In the new work, Collins and colleagues show that normal dyskerin is a component of human H/ACA snoRNPs.

Mutant Dyskerin Ends Relationship with Telomerase | Science

Dyskerin expression correlates with active proliferation ...

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Dyskerin (encoded by the DKC1 gene) is an essential nucleolar protein involved in cell proliferation, where it is required for the pseudo-uridylation of ribosomal RNA (rRNA) molecules and the ...

Dyskerin expression correlates with active proliferation ...

Dyskeratosis congenita mutations in dyskerin SUMOylation ...

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5/8/2013 · Abstract. Mutations in the dyskerin gene (DKC1) cause X-linked dyskeratosis congenita (DC), a rare and fatal premature aging syndrome characterized by defective telomere maintenance.Dyskerin is a highly conserved nucleolar protein, and a component of the human telomerase complex that is essential for human telomerase RNA (hTR) stability.

Dyskeratosis congenita mutations in dyskerin SUMOylation ...

(PDF) DKC1 overexpression associated with prostate cancer ...

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PDF | Dyskerin encoded by the DKC1 gene is a predominantly nucleolar protein essential for the formation of pseudouridine in RNA and the telomerase RNA subunit hTR. Inherited mutations ...

(PDF) DKC1 overexpression associated with prostate cancer ...

Dyskerin Localizes to the Nucleolus and Its ...

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Dyskerin reveals a high degree of evolutionary conservation and is the orthologue of the yeast Cbf5p, Drosophila Nop60B and rat NAP57 proteins (3,8–12). That dyskerin is a nucleolar protein and performs a role in rRNA biogenesis is supported by functional studies on the orthologous proteins.

Dyskerin Localizes to the Nucleolus and Its ...

DKC1 overexpression associated with prostate cancer ...

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9/15/2009 · Dyskerin, also known as Cbf5, is a predominantly nucleolar protein encoded by the DKC1 gene at Xq28 (Mason et al, 2005; Kirwan and Dokal, 2008).As part of a …

DKC1 overexpression associated with prostate cancer ...

WikiGenes - DKC1 - dyskeratosis congenita 1, dyskerin

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The gene responsible for X-linked DC encodes a highly conserved protein called dyskerin that is believed to be essential in ribosome biogenesis and may also be involved in telomerase RNP assembly . Dyskerin gene silencing in the MCF-7 human breast carcinoma cell line reduced telomerase activity and rRNA pseudo-uridylation .

WikiGenes - DKC1 - dyskeratosis congenita 1, dyskerin

Novel Dyskerin-Mediated Mechanism of p53 Inactivation ...

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In this study, we show that impairment of dyskerin function can cause p53 inactivation due to a defect in p53 mRNA transla- tion. siRNA-mediated reduction of dyskerin levels caused a decrease of p53 mRNA translation, protein levels, and functional activity, both in human breast cancer cells and in primary mammary epithelial progenitor cells.

Novel Dyskerin-Mediated Mechanism of p53 Inactivation ...

Mutations in TERT, the Gene for Telomerase Reverse ...

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In this study, we found nonsynonymous mutations in the TERT gene, which encodes telomerase reverse transcriptase, in patients with apparently acquired aplastic anemia. That these mutations are ...

Mutations in TERT, the Gene for Telomerase Reverse ...

What are single nucleotide polymorphisms (SNPs ...

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4/2/2019 · When SNPs occur within a gene or in a regulatory region near a gene, they may play a more direct role in disease by affecting the gene’s function. Most SNPs have no effect on health or development. Some of these genetic differences, however, have proven to be very important in the study of human health.

What are single nucleotide polymorphisms (SNPs ...

Research Paper MNS16A tandem repeat minisatellite of human ...

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with diverse cancer types [9]. However, the functional mechanisms underlying the associations with cancer remain to be clarified for most risk variants. In 2003, Wang et al. [11] first identified a polymorphic tandem repeat minisatellite of the human telomerase gene, termed MNS16A in a pilot study …

Research Paper MNS16A tandem repeat minisatellite of human ...

Mouse dyskerin mutations affect accumulation of telomerase ...

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7/20/2004 · Dyskerin is a nucleolar protein present in small nucleolar ribonucleoprotein particles that modify specific uridine residues of rRNA by converting them to pseudouridine. Dyskerin is also a component of the telomerase complex. Point mutations in the human gene encoding dyskerin cause the skin and bone marrow failure syndrome dyskeratosis congenita (DC).

Mouse dyskerin mutations affect accumulation of telomerase ...

RNA Interference-Mediated Knockdown on DKC1 Gene in ...

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Dyskerin (DKC1) gene, a tolemerase ribonucleoprotein complex, has been reported to be up-regulated in various sporadic cancers, including colorectal cancer (CRC). This study was performed to investigate its potential as a therapeutic target for CRC.

RNA Interference-Mediated Knockdown on DKC1 Gene in ...

WD REPEAT-CONTAINING PROTEIN ANTISENSE TO TP53 ... - …

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WD REPEAT-CONTAINING PROTEIN ANTISENSE TO TP53; WRAP53 ... In vitro functional expression studies in HeLa cells and patient cells showed that the mutant WRAP53 protein impaired normal telomerase trafficking, leading to a loss of telomerase complex components, including TCAB1, dyskerin, and TERC from Cajal bodies. ... In a study of 1,751 ...

WD REPEAT-CONTAINING PROTEIN ANTISENSE TO TP53 ... - …

Loss of functional E-cadherin renders cells more resistant ...

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Loss of functional E-cadherin renders cells more resistant to the apoptotic agent taxol in vitro

Loss of functional E-cadherin renders cells more resistant ...
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