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Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.

Authors: Ruggero, D  Grisendi, S  Piazza, F  Rego, E  Mari, F  Rao, PH  Cordon-Cardo, C  Pandolfi, PP 
Citation: Ruggero D, etal., Science. 2003 Jan 10;299(5604):259-62.
Pubmed: (View Article at PubMed) PMID:12522253
DOI: Full-text: DOI:10.1126/science.1079447

Mutations in DKC1 cause dyskeratosis congenita (DC), a disease characterized by premature aging and increased tumor susceptibility. The DKC1 protein binds to the box H + ACA small nucleolar RNAs and the RNA component of telomerase. Here we show that hypomorphic Dkc1 mutant (Dkc1m) mice recapitulate in the first and second generations (G1 and G2) the clinical features of DC. Dkc1m cells from G1 and G2 mice were impaired in ribosomal RNA pseudouridylation before the onset of disease. Reductions of telomere length in Dkc1m mice became evident only in later generations. These results suggest that deregulated ribosome function is important in the initiation of DC, whereas telomere shortening may modify and/or exacerbate DC.


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RGD Object Information
RGD ID: 11251731
Created: 2016-06-20
Species: All species
Last Modified: 2016-06-20
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.