| Written | 2002-11 | Claude Viguié |
| Service de Dermatologie, Hôpital Tarnier-Cochin, 89 rue d'Assas, 75006 Paris, France |
| Identity |
| HGNC (Hugo) | DKC1 |
| HGNC Alias symb | XAP101 | dyskerin | NAP57 | NOLA4 | Cbf5 |
| HGNC Alias name | H/ACA ribonucleoprotein complex subunit 4 |
| HGNC Previous name | DKC |
| HGNC Previous name | dyskeratosis congenita 1, dyskerin |
| LocusID (NCBI) | 1736 |
| Atlas_Id | 157 |
| Location | Xq28 [Link to chromosome band Xq28] |
| Location_base_pair | Starts at 154762864 and ends at 154777689 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping DKC1.png] |
| Local_order | distal, DKC1 is between DXS1684 and DXS1108. |
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| 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 ] |
| Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ] |
| Dyskeratosis congenita (DKC) |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jan 1 18:50:06 CET 2021 |
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