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DKC1 (dyskeratosis congenita 1, dyskerin)

Written2002-11Claude Viguié
Service de Dermatologie, Hôpital Tarnier-Cochin, 89 rue d'Assas, 75006 Paris, France

(Note : for Links provided by Atlas : click)

Identity

Other alias
LocusID (NCBI) 1736
Atlas_Id 157
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at and ends at bp from pter
Local_order distal, DKC1 is between DXS1684 and DXS1108.
 
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DKC1 (Xq28) / GCH1 (14q22.2)DKC1 (Xq28) / NKIRAS1 (3p24.2)
Note X-linked dyskeratosis congenita (genes for dominant and recessive autosomal forms have not been identified).

DNA/RNA

Description Gene composed of 15 exons (exons 1 and 15 non coding) / 15kb length cDNA 2465 bp (open reading frame between nt 93 and 1637)

Protein

Description Dyskerin, 514 amino acids, 57 kDa.
Expression widespread tissue expression.
Function Multifunctional nucleolar protein which associates with H+ACA (hairpin-linge hairpin-tail) class of small nucleolar RNA as its catalytic sub-unit; implicated in centromere function; associated also with the telomerase RNA component; function in ribosome biosynthesis
Homology highly conserved in eukaryotes: Nap57 (nucleolar associated protein) in the rat, Nop60B in drosophila, Cbf5p (centromere/microtubule binding protein) in yeast. Regional homologies with bacterial Trub proteins and Saccharomyces cerevisiae PUS4 protein.

Implicated in

Note
Disease Dyskeratosis congenita, X-linked recessive form
Hybrid/Mutated Gene missense mutation by single-nucleotide substitution at position 1058 in exon 11 (A353V) detected in several different families. Sporadic other missense mutations were detected in exon 3, 4, 10, 12 and in intron 2. Rare deletions and no null mutations are observed.
Abnormal Protein non functional protein. It is not presently known how the different mutations affect the protein activity and are responsible of the various phenotypes
Oncogenesis myelodysplasia and leukemia following bone marrow failure and pancytopenia. Spinocellular carcinoma, other carcinomas of various localization.
  

Bibliography

Dyskeratosis congenita in all its forms.
Dokal I
British journal of haematology. 2000 ; 110 (4) : 768-779.
PMID 11054058
 
Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1.
Heiss NS, Bächner D, Salowsky R, Kolb A, Kioschis P, Poustka A
Genomics. 2000 ; 67 (2) : 153-163.
PMID 10903840
 
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, Lestringant G, Varma N, Mason PJ, Dokal I, Poustka A
American journal of human genetics. 1999 ; 65 (1) : 50-58.
PMID 10364516
 
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.
Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I
Nature. 2001 ; 413 (6854) : 432-435.
PMID 11574891
 
Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier.
Vulliamy TJ, Knight SW, Heiss NS, Smith OP, Poustka A, Dokal I, Mason PJ
Blood. 1999 ; 94 (4) : 1254-1260.
PMID 10438713
 

Citation

This paper should be referenced as such :
Viguié, C
DKC1 (dyskeratosis congenita 1, dyskerin)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(1):14-15.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/DKC1ID157.html


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Dyskeratosis congenita (DKC)


External links

Nomenclature
Cards
AtlasDKC1ID157.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)1736
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


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indexed on : Thu Oct 18 17:33:53 CEST 2018

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