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Dyskeratosis congenita 1, dyskerin

DKC1, NAP57, Cbf5
This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] (from NCBI)
Top mentioned proteins: telomerase reverse transcriptase, CAN, HAD, TIN2, Nail
Papers on DKC1
Dyskeratosis congenita associated with leukoplakia of the tongue.
Noguchi et al., Toyama, Japan. In Int J Oral Maxillofac Surg, Feb 2016
The diagnosis of DC was confirmed by detection of short telomeres in the blood cells and mutations in the DKC1 gene.
Chondrogenic potential and anti-senescence effect of hypoxia on canine adipose mesenchymal stem cells.
Cha et al., Anyang, South Korea. In Vet Res Commun, Jan 2016
Also, we found that hypoxia strongly expressed anti-senescence related genes such as HDAC1 (histone deacetylase 1), DNMT1 (DNA (cytosine-5)-methyltransferase 1), Bcl-2 (inhibitor of apoptosis), TERT (telomerase reverse transcriptase), LDHA (lactate dehydrogenase A), SLC2A1 (glucose transporter), and DKC1 (telomere holoenzyme complex) and differentiation potential of cAD-MSCs into chondrocytes, than seen under the normoxic culture conditions.
Downregulation of telomerase maintenance-related ACD expression in patients undergoing immunosuppresive therapy following kidney transplantation.
Gumprecht et al., Zabrze, Poland. In Exp Ther Med, Dec 2015
In stage 2 of the study, reverse transcription-quantitative polymerase chain reaction analysis of ACD, DKC1 and hTERT mRNA was conducted for all transplant patients and control subjects.
A functional genomics screen identifies an Importin-α homolog as a regulator of stem cell function and tissue patterning during planarian regeneration.
Zayas et al., San Diego, United States. In Bmc Genomics, 2014
RESULTS: Along with five previously characterized genes (Smed-cycD, Smed-morf41/mrg-1, Smed-pdss2/dlp1, Smed-slbp, and Smed-tph), we identified 20 additional genes necessary for stem cell maintenance (Smed-sart3, Smed-smarcc-1, Smed-espl1, Smed-rrm2b-1, Smed-rrm2b-2, Smed-dkc1, Smed-emg1, Smed-lig1, Smed-prim2, Smed-mcm7, and a novel sequence) or general regenerative capability (Smed-rbap46/48-2, Smed-mcm2, Smed-ptbp1, and Smed-fen-1) or that caused tissue-specific defects upon knockdown (Smed-ddc, Smed-gas8, Smed-pgbd4, and Smed-b9d2).
Bone marrow failure and the telomeropathies.
Young et al., Bethesda, United States. In Blood, 2014
Genotype-phenotype correlations show genes responsible for X-linked (DKC1) and severe recessive childhood dyskeratosis congenita, typically with associated mucocutaneous features, and others (TERC and TERT) for more subtle presentation as telomeropathy in adults, in which multiorgan failure may be prominent.
Characterization of the antioxidant systems in different complementation groups of Dyskeratosis Congenita.
Pallardo et al., Spain. In Free Radic Biol Med, 2014
The telomerase complex is formed by complex of protein (TERT, Dyskerin, GAR, NHP2, NOP10) and nucleic acid (TERC) that together work as a reverse transcriptase.
Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA.
Regev et al., Cambridge, United States. In Cell, 2014
Perturbing pseudouridine synthases (PUS) uncovers which pseudouridine synthase modifies each site and their target sequence features.
The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.
Wong et al., Vancouver, Canada. In Hum Mol Genet, 2012
purified telomerase holoenzyme complexes from different X-linked dyskeratosis congenita (X-DC) cells have normal catalytic activity; data confirm that dyskerin promotes telomerase RNA (TER) stability in vivo, endorsing the development of TER supplementation strategies for the treatment of X-DC
A new human dyskerin isoform with cytoplasmic localization.
Furia et al., Napoli, Italy. In Biochim Biophys Acta, 2011
suggests that DKC1 nucleolar and cytoplasmic functions might cumulatively account for the plethora of manifestations displayed by this syndrome
rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells.
Dinman et al., College Park, United States. In Mol Cell, 2011
rRNA pseudouridylation defects resulted from a deficient pseudouridylate synthetase affect ribosomal ligand binding and translational fidelity from yeast to human cells.
Correlation of dyskerin expression with active proliferation independent of telomerase.
Patel et al., Philadelphia, United States. In Head Neck, 2011
The role of dyskerin in tumorigenesis does not correlate with its function within the telomerase complex. Dyskerin is often overexpressed in oral squamous cell carcinoma, and correlates with active cell proliferation.
Dyskeratosis congenita--two siblings with a new missense mutation in the DKC1 gene.
Apetato et al., Lisbon, Portugal. In Pediatr Dermatol, 2011
A genetic analysis was performed and a new missense mutation S356P, hemizygous, was identified in the DKC1 gene in two dyskeratosis congenita patients.
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.
Artandi et al., Stanford, United States. In Nature, 2011
In contrast, mutation of dyskerin (DKC1) in X-linked dyskeratosis congenita severely impairs telomerase activity by blocking telomerase assembly and disrupts telomere elongation during reprogramming.
Dyskeratosis congenita.
Dokal, London, United Kingdom. In Hematology Am Soc Hematol Educ Program, 2010
Studies over the last 15 years have led to significant advances, with 8 DC genes (DKC1, TERC, TERT, NOP10, NHP2, TIN2, C16orf57, and TCAB1) having been characterized.
The genetics and clinical manifestations of telomere biology disorders.
Bertuch et al., Rockville, United States. In Genet Med, 2010
DKC1, TERC, TERT, NOP10, and NHP2 encode components of telomerase or a telomerase-associated factor and TINF2, a telomeric protein.
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Ali et al., Al `Ayn, United Arab Emirates. In Hum Mutat, 2010
Several novel (p.S2439fs) mutations have been reported including c.7317delA in NF1, c.5C>T (p.A2V) in DKC1, c.1766T>A (p.I589N) in TP63, and c.2117G>T (p.R706L) in VLDLR.
Dyskeratosis congenita.
Kumar et al., Benares, India. In Adv Exp Med Biol, 2009
Four genes, namely DKC1 (codes for dyskerin), TERC and TERT (code for telomerase) and NOP10, have been implicated in the pathogenesis; the short telomeres provide a marker for genetic linkage studies.
Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita.
Ruggero et al., Philadelphia, United States. In Science, 2006
specific defect in IRES (internal ribosome entry site)-dependent translation in Dkc1 mutant mice; defect results in impaired translation of mRNAs containing IRES elements, including those encoding p27Kip1), Bcl-xL and XIAP
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
Young et al., Bethesda, United States. In N Engl J Med, 2005
METHODS: We screened blood or marrow cells from 124 patients with apparently acquired aplastic anemia and 282 control subjects for sequence variations in the TERT, DKC1, NHP2, and NOP10 genes; an additional 81 patients and 246 controls were examined for genetic variations in TERT.
Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.
Pandolfi et al., New York City, United States. In Science, 2003
results establish a role of dyskerin for deregulated rRNA modification in tumor formation and disease pathogenesis in dyskeratosis congenita
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