Gene: DKC1

Alternate names for this Gene: CBF5|DKC|DKCX|NAP57|NOLA4|XAP101

Gene Summary: This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: dyskerin pseudouridine synthase 1

Type of Gene: protein-coding

rs121912304 in DKC1 gene and Dyskeratosis Congenita PMID 11491307 2001 One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC).

PMID 24914498 2014 Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.

PMID 14648217 2003 Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

PMID 10583221 1999 Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.

PMID 21602826 2011 Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

PMID 23660516 2013 Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects.

PMID 25992652 2015 Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients.

PMID 9590285 1998 X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

PMID 22058290 2012 The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.

rs121912287 in DKC1 gene and X-Linked Dyskeratosis Congenita PMID 10364516 1999 X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

PMID 25219674 2014 Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA.

PMID 17417794 2008 X-linked dyskeratosis congenita in Malaysia.

PMID 19734544 2009 Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.

PMID 18802941 2009 Identification of a novel mutation in DKC1 in dyskeratosis congenita.

PMID 21610750 2011 Clinical utility gene card for: dyskeratosis congenita.

PMID 15304085 2004 Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita.

PMID 19879169 2010 Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita.

PMID 21602826 2011 Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

PMID 9590285 1998 X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

PMID 24914498 2014 Instead of the conventional gene-specific approach with Sanger sequencing, we used whole-exome sequencing for the genetic diagnosis of this patient with possible Hoyeraal-Hreidarsson syndrome and successfully identified a missense mutation (c.146C>T, p.Thr49Me) in DKC1.

PMID 12437656 2002 A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.

PMID 10583221 1999 Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.

PMID 24914498 2014 Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.

PMID 29483670 2018 Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

PMID 12137939 2002 Basal transcription activity of the dyskeratosis congenita gene is mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding site is associated with decreased promoter activity.

PMID 11379875 2001 Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.