This gene is a member of theH/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 18SrRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The protein encoded by this gene is related to theSaccharomyces cerevisiae Cbf5p andDrosophila 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-linkeddyskeratosis congenita.[7]
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^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.PMID9590285.S2CID205342127.
^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.PMID9888995.
^Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ (2014). "Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing".Gene.546 (2):425–9.doi:10.1016/j.gene.2014.06.011.PMID24914498.
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.PMID15613268.S2CID38163343.
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.PMID7607282.S2CID441225.
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.PMID8125298.
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.PMID9373149.
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.doi:10.1182/blood.V94.4.1254.PMID10438713.
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.PMID10556300.
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.PMID10583221.S2CID23750791.
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.PMID11379875.S2CID23829134.
