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Telomerase dysfunction and dyskeratosis congenita

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Abstract

Dyskeratosis congenita (DC) is a multi system bone marrow failure syndrome characterized by muco-cutaneous abnormalities and an increased predisposition to malignancy. It exhibits considerable clinical and genetic heterogeneity. X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognized. The X-linked recessive form is due to mutations in dyskerin, which is a component of both small nucleolar ribonuclear protein particles and the telomerase complex. Autosomal dominant DC is due to mutations in the RNA component of telomerase, TERC. As dyskerin and TERC are both components of the telomerase complex and all patients with DC have short telomeres it appears that the principal pathology in DC relates to telomerase dysfunction. The gene or genes involved in the recessive form of DC remain elusive, though genes whose products are required for telomere maintenance remain strong candidates. The study of DC has highlighted the critical role of telomerase and the consequences, including premature aging and malignancy, of its dysfunction.

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Abbreviations

AA:

aplastic anaemia

CR4-CR5 domain:

conserved region 4 and conserved region 5

CR7:

conserved region 7

DC:

dyskeratosis congenita

DCR:

dyskeratosis congenita registry

DKC1 :

dyskeratosis congenita gene 1-mutated in X-linked DC

Dkc1 :

mouse homologue of DKC1

GAR1:

glycine-arginine-rich protein 1

H/ACA domain:

hairpin-hinge-hairpin-ACA motif

HH:

Hoyeraal–Hreidarsson syndrome

IVS:

intervening sequence

MDS:

myelodysplastic syndrome

NOP10:

novel protein 10Kd

NHP2:

novel high mobility group (HMG)- like protein 2

rRNA:

ribosomal RNA

RNP:

ribonucleoprotein

SnoRNAs:

small nucleolar RNA

SnoRNP:

small nucleolar ribonucleoprotein

Terc :

mouse homologue of TERC

hTERT:

telomerase reverse transcriptase (human)

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  1. Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College London, Hammersmith Hospital, Du Cane Road, London, W12 ONN, United Kingdom

    Amanda J. Walne & Inderjeet Dokal

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Walne, A.J., Dokal, I. Telomerase dysfunction and dyskeratosis congenita. Cytotechnology 45, 13–22 (2004). https://doi.org/10.1007/s10616-004-5121-5

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  • DOI: https://doi.org/10.1007/s10616-004-5121-5

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