The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

By T. Vulliamy, A. Marrone, F. Goldman, A. Dearlove, M. Bessler, P. Mason, I. Dokal. Nature, 2001

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Short telomeres are a risk factor for idiopathic pulmonary fibrosis (2008, background): “Mutations in either of the essential components of telomerase, hTERT, the catalytic reverse transcriptase, or hTR, telomerase RNA, lead to haploinsufficiency, a decrease in telomerase dose that leads to accelerated telomere shortening and ultimately to organ failure (5, 7, 17, 18).”
Non-coding RNA. (2006, background): “A small RNA with similarity to box H/ACA snoRNAs is a component of telomerase (for review see 36) and is mutated in autosomal dominant dyskeratosis congenita (37).”
Telomeres and telomerase. (2002, positive): “Haploinsufficiency for telomerase in humans RNA leads to early mortality through bone marrow failure (Vulliamy et al. 2001).”
Human Telomerase and Its Regulation (2002, background): “A molecular defect of dyskeratosis congenita results in dysfunction of telomerase due to mutations in either hTR or the telomerase RNA-associated protein dyskerin (169, 239).”
Telomeres: protecting chromosomes against genome instability (2010, background): “cgi?id=127550">Autosomal dominant dyskeratosis congenita has been linked to mutations in TERC itsel”
Telomeres and telomerase: the path from maize, Tetrahymena and yeast to human cancer and aging (2006, background): “This initial association of dyskerin with telomerase paved the way for the demonstration that the autosomal dominant form of dyskeratosis congenita is caused by mutations in human telomerase RN”