Atlas of Genetics and Cytogenetics in Oncology and Haematology
DKC1 (dyskeratosis congenita 1, dyskerin)
| Identity |
| HGNC (Hugo) | DKC1 |
| LocusID (NCBI) | 1736 |
| Location | Xq28 |
| Location_base_pair | Starts at 153991017 and ends at 154005964 bp from pter ( according to hg19-Feb_2009) [Mapping] |
| Local_order | distal, DKC1 is between DXS1684 and DXS1108. |
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| Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics | |
| 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 |
| 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. |
| External links |
| Bibliography |
| 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 |
| 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 |
| 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, Bˆ§chner D, Salowsky R, Kolb A, Kioschis P, Poustka A |
| Genomics. 2000 ; 67 (2) : 153-163. |
| PMID 10903840 |
| 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 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 11-2002 | Claude Viguié |
| 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 online version Free pdf version [Bibliographic record ] |
| URL : http://AtlasGeneticsOncology.org/Genes/DKC1ID157.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sun Dec 21 03:24:29 CET 2014 |
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