Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
Human telomerase has two core components, the RNA molecule (TERC) that provides the
template for telomere repeat elongation and a reverse transcriptase (TERT) that is
responsible for the addition of telomere repeats at the ends of each chromosome. Mutations
in TERC have been found in the autosomal-dominant form of the inherited bone marrow
failure syndrome dyskeratosis congenita and in a subset of patients with aplastic anemia
and myelodysplasia. These patients have short telomeres compared to age-matched …
template for telomere repeat elongation and a reverse transcriptase (TERT) that is
responsible for the addition of telomere repeats at the ends of each chromosome. Mutations
in TERC have been found in the autosomal-dominant form of the inherited bone marrow
failure syndrome dyskeratosis congenita and in a subset of patients with aplastic anemia
and myelodysplasia. These patients have short telomeres compared to age-matched …