Article
A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice.
Proceedings of the National Academy of Sciences of the United States of America - 22 Jul 2008
Gu Bai-Wei, Bessler Monica, Mason Philip J
Abstract excerpt
Telomeres are nucleoprotein structures that cap the ends of chromosomes, protecting them from exonucleases and distinguishing them from double-stranded breaks. Their integrity is maintained by telomerase, an enzyme consisting of a reverse transcriptase, TERT and an RNA template, TERC, and other components, including the pseudouridine synthase, dyskerin, the product of the DKC1 gene. When telomeres become...
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