Dyskerin

From Wikipedia, the free encyclopedia

Dyskeratosis congenita 1, dyskerin

Identifiers

DKC1; DKC; NAP57; NOLA4; XAP101; dyskerin

External IDs

Gene ontology
Molecular Function:	• telomerase activity • RNA binding • tRNA-pseudouridine synthase activity • isomerase activity
Cellular Component:	• nucleus • nucleoplasm • telomerase holoenzyme complex • nucleolus
Biological Process:	• regulation of progression through cell cycle • rRNA processing • telomere maintenance via telomerase • cell proliferation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

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Refseq

NM_001363 (mRNA)
NP_001354 (protein)

n/a (mRNA)
n/a (protein)

Location

Chr X: 153.64 - 153.66 Mb

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Pubmed search

[1]

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Dyskeratosis congenita 1, dyskerin, also known as DKC1, is a human gene.^[1]

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. 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 (MPP1) 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.^[1]

[edit] References

^ ^a ^b Entrez Gene: DKC1 dyskeratosis congenita 1, dyskerin.

[edit] Further reading

Marrone A, Dokal I (2004). "Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.". Expert reviews in molecular medicine 6 (26): 1–23. doi:10.1017/S1462399404008671. PMID 15613268.
Yamaguchi H (2007). "Mutations of telomerase complex genes linked to bone marrow failures.". Journal of Nippon Medical School = Nihon Ika Daigaku zasshi 74 (3): 202–9. PMID 17625368.
Aalfs CM, van den Berg H, Barth PG, Hennekam RC (1995). "The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia.". Eur. J. Pediatr. 154 (4): 304–8. PMID 7607282.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298.
Devriendt K, Matthijs G, Legius E, et al. (1997). "Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.". Am. J. Hum. Genet. 60 (3): 581–7. PMID 9042917.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149.
Heiss NS, Knight SW, Vulliamy TJ, et al. (1998). "X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.". Nat. Genet. 19 (1): 32–8. doi:10.1038/ng0598-32. PMID 9590285.
Hassock S, Vetrie D, Giannelli F (1999). "Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene.". Genomics 55 (1): 21–7. doi:10.1006/geno.1998.5600. PMID 9888995.
McGrath JA (1999). "Dyskeratosis congenita: new clinical and molecular insights into ribosome function.". Lancet 353 (9160): 1204–5. PMID 10217077.
Knight SW, Heiss NS, Vulliamy TJ, et al. (1999). "X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.". Am. J. Hum. Genet. 65 (1): 50–8. PMID 10364516.
Vulliamy TJ, Knight SW, Heiss NS, et al. (1999). "Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier.". Blood 94 (4): 1254–60. PMID 10438713.
Heiss NS, Girod A, Salowsky R, et al. (2000). "Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita.". Hum. Mol. Genet. 8 (13): 2515–24. PMID 10556300.
Knight SW, Heiss NS, Vulliamy TJ, et al. (2000). "Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.". Br. J. Haematol. 107 (2): 335–9. PMID 10583221.
Mitchell JR, Wood E, Collins K (1999). "A telomerase component is defective in the human disease dyskeratosis congenita.". Nature 402 (6761): 551–5. doi:10.1038/990141. PMID 10591218.
Yaghmai R, Kimyai-Asadi A, Rostamiani K, et al. (2000). "Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.". J. Pediatr. 136 (3): 390–3. doi:10.1067/mpd.2000.104295. PMID 10700698.
Heiss NS, Bächner D, Salowsky R, et al. (2000). "Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1.". Genomics 67 (2): 153–63. doi:10.1006/geno.2000.6227. PMID 10903840.
Pogacić V, Dragon F, Filipowicz W (2000). "Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10.". Mol. Cell. Biol. 20 (23): 9028–40. PMID 11074001.
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. PMID 11076863.
Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMID 11256614.
Knight SW, Vulliamy TJ, Morgan B, et al. (2001). "Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.". Hum. Genet. 108 (4): 299–303. PMID 11379875.