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

@article{Ruggero2003DyskeratosisCA,
  title={Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.},
  author={Davide Ruggero and Silvia Grisendi and Francesco Piazza and Eduardo de Almeida Rego and Francesca Mari and Pulivarthi H. Rao and Carlos Cordon-Cardo and Pier Paolo Pandolfi},
  journal={Science},
  year={2003},
  volume={299 5604},
  pages={
          259-62
        }
}
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… CONTINUE READING
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