Diskerin
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| Dyskeratosis congenita 1, diskerin | |||||||||||
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| Identifikatori | |||||||||||
| Simboli | DKC1; CBF5; DKC; DKCX; NAP57; NOLA4; XAP101 | ||||||||||
| Vanjski ID | OMIM: 300126 HomoloGene: 1045 GeneCards: DKC1 Gene | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| podaci | |||||||||||
| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 1736 | 245474 | |||||||||
| Ensembl | ENSG00000130826 | ENSMUSG00000031403 | |||||||||
| UniProt | O60832 | Q9ESX5 | |||||||||
| Ref. Sekv. (iRNK) | NM_001142463 | NM_001030307 | |||||||||
| Ref. Sekv. (protein) | NP_001135935 | NP_001025478 | |||||||||
| Lokacija (UCSC) | Chr HG1497_PATCH: 153.97 - 153.99 Mb | Chr X: 75.1 - 75.11 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
H/ACA ribonukleoproteinski kompleks podjednica 4 je protein koji je kod ljudi kodiran DKC1 genom.[1][2][3]
Ovaj gen je član H/ACA snoRNPs familije gena (malih nukleolarnih ribonukleoproteina). snoRNP proteini učestvuju u raznim aspektima rRNK obrade i modifikacije. Oni se klasifikuju u dve familije: C/D i H/ACA. H/ACA snoRNP grupa takođe obuhvata NOLA1, 2 i 3 proteine. Protein kodiran ovim genom i tri NOLA proteina se lokalizuju u gustim fibrilarnim komponentama nukleola i u namotanim (Cajal) telima u nukleusu. Produkcija 18S rRNK i rRNK pseudouridilacija bivaju ometene ako se bilo koji od ova četiri proteina iscrpi. Protein kodiran ovim genom je srodan sa Saccharomyces cerevisiae Cbf5p i Drosophila melanogaster Nop60B proteinima.[3]
Mutacije DKC1 gena su associrane sa Hoyeraal-Hreidarsson sindromom.[4]
- ↑ Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I (May 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 (Mar 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.
- ↑ 3,0 3,1 „Entrez Gene: DKC1 dyskeratosis congenita 1, dyskerin”.
- ↑ Lim, B. C.; Yoo, S. K.; Lee, S; Shin, J. Y.; Hwang, H; Chae, J. H.; Hwang, Y. S.; Seo, J. S. i dr.. (2014). „Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing”. Gene. DOI:10.1016/j.gene.2014.06.011. PMID 24914498.
- 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. DOI:10.1272/jnms.74.202. 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. DOI:10.1007/BF01957367. 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. DOI:10.1016/0378-1119(94)90802-8. 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. PMC 1712491. 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. DOI:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- McGrath JA (1999). „Dyskeratosis congenita: new clinical and molecular insights into ribosome function”. Lancet 353 (9160): 1204–5. DOI:10.1016/S0140-6736(99)00011-2. 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. DOI:10.1086/302446. PMC 1378074. 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. DOI:10.1093/hmg/8.13.2515. 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. DOI:10.1046/j.1365-2141.1999.01690.x. 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. DOI:10.1128/MCB.20.23.9028-9040.2000. PMC 86556. PMID 11074001.
- Hartley JL, Temple GF, Brasch MA (2001). „DNA Cloning Using In Vitro Site-Specific Recombination”. Genome Res. 10 (11): 1788–95. DOI:10.1101/gr.143000. PMC 310948. 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. PMC 1083732. 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. DOI:10.1007/s004390100494. PMID 11379875.