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http://purl.uniprot.org/citations/10556300http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10556300http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10556300http://www.w3.org/2000/01/rdf-schema#comment"Mutations in the DKC1 gene are responsible for causing the bone marrow failure syndrome, dyskeratosis congenita (DKC; OMIM 305000). The majority of mutations identified to date are missense mutations and are clustered in exons 3, 4 and 11. It is predicted that the corresponding protein dyskerin is a nucleolar phosphoprotein which functions in both pseudo-uridylation and cleavage of precursor rRNA. Dyskerin contains multiple putative nuclear localization signals (NLSs) at the N-terminus (KKHKKKKERKS) and C-terminus [KRKR(X)(17)KKEKKKSKKDKKAK(X)(17)-KKKKKKKKAKEVELVSE]. By fusing dyskerin with the enhanced green fluorescent protein (EGFP) and by following a time course of expression in mammalian cell lines, we showed that full-length dyskerin initially localizes to the nucleoplasm and subsequently accumulates in the nucleoli. A co-localization to the coiled bodies was observed in some cells where dyskerin-EGFP had translocated to the nucleoli. Analysis of a series of mutant constructs indicated that whereas the most C-terminal lysine-rich clusters [KKEKKKS-KKDKKAK(X)(17)KKKKKKKKAKEVELVSE] influence the rate of nucleoplasmic and nucleolar accumulation, the KRKR sequence is primarily responsible for the nuclear import. Nucleolar localization was maintained when either the N- or C-terminal motifs were mutated, but not when all NLSs were removed. We conclude that the intranuclear localization of dyskerin is accomplished by the synergistic effect of a number of NLSs and that the nucleolar localization signals are contained within the NLSs. Further, examination of dyskerin-EGFP fusions mimicking mutations detected in patients indicated that the intracellular mislocalization of dyskerin is unlikely to cause DKC."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.org/dc/terms/identifier"doi:10.1093/hmg/8.13.2515"xsd:string
http://purl.uniprot.org/citations/10556300http://purl.org/dc/terms/identifier"doi:10.1093/hmg/8.13.2515"xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/author"Girod A."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/author"Girod A."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/author"Poustka A."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/author"Poustka A."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/author"Wiemann S."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/author"Wiemann S."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/author"Pepperkok R."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/author"Pepperkok R."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/author"Heiss N.S."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/author"Heiss N.S."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/author"Salowsky R."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/author"Salowsky R."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/date"1999"xsd:gYear
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/date"1999"xsd:gYear
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/name"Hum. Mol. Genet."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/name"Hum. Mol. Genet."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/pages"2515-2524"xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/pages"2515-2524"xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/title"Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita."xsd:string
http://purl.uniprot.org/citations/10556300http://purl.uniprot.org/core/title"Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita."xsd:string
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