Nature Genetics36, 447 - 449 (2004)
Published online: 18 April 2004; | doi:10.1038/ng1346
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
Tom Vulliamy1, Anna Marrone1, Richard Szydlo1, Amanda Walne1, Philip J Mason1, 2
& Inderjeet Dokal1
1
Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, DuCane Rd, London
W12 ONN, UK.
2
Present address: Division of Hematology, Department of Internal Medicine, Washington University School of Medicine, Campus Box 8125, 660 South Euclid Avenue, St. Louis, Missouri
63110, USA.
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.
MORE ARTICLES LIKE THIS
These links to content published by NPG are automatically generated.
