RGD Reference Report - X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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

Authors: Heiss, NS  Knight, SW  Vulliamy, TJ  Klauck, SM  Wiemann, S  Mason, PJ  Poustka, A  Dokal, I 
Citation: Heiss NS, etal., Nat Genet 1998 May;19(1):32-8.
RGD ID: 734888
Pubmed: PMID:9590285   (View Abstract at PubMed)
DOI: DOI:10.1038/ng0598-32   (Journal Full-text)

X-linked recessive dyskeratosis congenita (DKC) is a rare bone-marrow failure disorder linked to Xq28. Hybridization screening with 28 candidate cDNAs resulted in the detection of a 3' deletion in one DKC patient with a cDNA probe (derived from XAP101). Five different missense mutations in five unrelated patients were subsequently identified in XAP101, indicating that it is the gene responsible for X-linked DKC (DKC1). DKC1 is highly conserved across species barriers and is the orthologue of rat NAP57 and Saccharomyces cerevisiae CBF5. The peptide dyskerin contains two TruB pseudouridine (psi) synthase motifs, multiple phosphorylation sites, and a carboxy-terminal lysine-rich repeat domain. By analogy to the function of the known dyskerin orthologues, involvement in the cell cycle and nucleolar function is predicted for the protein.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
dyskeratosis congenita  IAGP 734888DNA:missense mutations and deletion: :multipleRGD 
dyskeratosis congenita  ISODKC1 (Homo sapiens)734888; 734888DNA:missense mutations and deletion: :multipleRGD 

Objects Annotated

Genes (Rattus norvegicus)
Dkc1  (dyskerin pseudouridine synthase 1)

Genes (Mus musculus)
Dkc1  (dyskeratosis congenita 1, dyskerin)

Genes (Homo sapiens)
DKC1  (dyskerin pseudouridine synthase 1)


Additional Information