Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
Nature genetics, 2004•nature.com
Telomerase is a ribonucleoprotein complex that is required to synthesize DNA repeats at the
ends of each chromosome. The RNA component of this reverse transcriptase is mutated in
the bone marrow failure syndrome autosomal dominant dyskeratosis congenita. Here we
show that disease anticipation is observed in families with this disease and that this is
associated with progressive telomere shortening.
ends of each chromosome. The RNA component of this reverse transcriptase is mutated in
the bone marrow failure syndrome autosomal dominant dyskeratosis congenita. Here we
show that disease anticipation is observed in families with this disease and that this is
associated with progressive telomere shortening.
Abstract
Telomerase is a ribonucleoprotein complex that is required to synthesize DNA repeats at the ends of each chromosome. The RNA component of this reverse transcriptase is mutated in the bone marrow failure syndrome autosomal dominant dyskeratosis congenita. Here we show that disease anticipation is observed in families with this disease and that this is associated with progressive telomere shortening.
nature.com