Mutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA.

@article{Theimer2003MutationsLT,
  title={Mutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA.},
  author={Carla A. Theimer and L David Finger and Luk{\'a}{\vs} Trant{\'i}rek and Juli Feigon},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2003},
  volume={100 2},
  pages={449-54}
}
Autosomal dominant dyskeratosis congenita (DKC), as well as aplastic anemia, has been linked to mutations in the RNA component of telomerase, the ribonucleoprotein responsible for telomere maintenance. Here we examine the effect of the DKC mutations on the structure and stability of human telomerase RNA pseudoknot and CR7 domains by using NMR and thermal melting. The CR7 domain point mutation decreases stability and alters a conserved secondary structure thought to be involved in human… CONTINUE READING

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Autosomal dominant dyskeratosis congenita ( DKC ) , as well as aplastic anemia , has been linked to mutations in the RNA component of telomerase , the ribonucleoprotein responsible for telomere maintenance .
TelomeraseGene product plays role in biological processTelomere Maintenance
Autosomal dominant dyskeratosis congenita ( DKC ) , as well as aplastic anemia , has been linked to mutations in the RNA component of telomerase , the ribonucleoprotein responsible for telomere maintenance .
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