Erosion of telomeric single-stranded overhang in patients with aplastic anaemia carrying telomerase complex mutations.

@article{Calado2009ErosionOT,
  title={Erosion of telomeric single-stranded overhang in patients with aplastic anaemia carrying telomerase complex mutations.},
  author={Rodrigo T. Calado and Joshua A. Regal and Sachiko Kajigaya and Neal S. Young},
  journal={European journal of clinical investigation},
  year={2009},
  volume={39 11},
  pages={1025-32}
}
BACKGROUND Loss-of-function mutations in telomerase complex genes reduce telomerase activity and shorten overall telomere length in leucocytes, and they can clinically manifest as bone marrow failure (aplastic anaemia and dyskeratosis congenita) and familial pulmonary fibrosis. Telomeres are constituted of double-stranded tandem TTAGGG repeats followed by a 3' G-rich single-stranded overhang, a crucial telomeric structural component responsible for the t-loop formation. MATERIALS AND METHODS… CONTINUE READING
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