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Article

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

Science (New York, N.Y.) - 10 Jan 2003

Ruggero Davide, Grisendi Silvia, Piazza Francesco, Rego Eduardo, Mari Francesca, Rao Pulivarthi H, Cordon-Cardo Carlos, Pandolfi Pier Paolo

Abstract excerpt

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...

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Source

Identifiers

PMID: 12522253
DOI: 10.1126/science.1079447

Genes

DKC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.PMID 12522253Read ↗

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Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation.Semantic proximity Read ↗

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