The DKC1 gene encodes dyskerin, a pseudouridine synthase that binds to box H + ACA small nucleolar RNAs and to the RNA component of telomerase. DKC1 mutations cause dyskeratosis congenita (DC), a rare recessive disease characterized by premature aging and cancer susceptibility. In the January 10
The mice have a two- to fourfold reduction in Dkc1 expression. By six months of age, over half the mice developed DC symptoms, such as severe anemia, lymphopenia, dyskeratosis of the skin, and bone marrow failure. The animals were also highly prone to tumors, especially lung and mammary tumors. After four generations, mutant mice began to show loss of telomeric repeats and telomerase activity.
The Dkc1 hypomorph provides a useful model of the human disease and demonstrates the important ...
