Article
Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice.
Oncogene - 31 Oct 2002
He Jun, Navarrete Sandra, Jasinski Murek, Vulliamy Tom, Dokal Inderjeet, Bessler Monica, Mason Philip J
Abstract excerpt
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome associated with increased cancer susceptibility. The X-linked form is due to mutations in the DKC1 gene encoding dyskerin, a nucleolar protein predicted to be involved in rRNA processing and associated with the telomerase complex. Available evidence suggests the pathology of DC is due to telomerase defects. We have used the inducible...
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