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

Tom Vulliamy, Anna Marrone, Frederick Goldman, Andrew Dearlove, Monica Bessler, Philip J. Mason () and Inderjeet Dokal
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Tom Vulliamy: Faculty of Medicine, Imperial College School of Science, Technology and Medicine, Hammersmith Hospital
Anna Marrone: Faculty of Medicine, Imperial College School of Science, Technology and Medicine, Hammersmith Hospital
Frederick Goldman: The University of Iowa Hospitals and Clinics
Andrew Dearlove: MRC UK, HGMP Resource Centre
Monica Bessler: Washington University School of Medicine
Philip J. Mason: Faculty of Medicine, Imperial College School of Science, Technology and Medicine, Hammersmith Hospital
Inderjeet Dokal: Faculty of Medicine, Imperial College School of Science, Technology and Medicine, Hammersmith Hospital

Nature, 2001, vol. 413, issue 6854, 432-435

Abstract: Abstract Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation, leukoplakia and nail dystrophy1,2. X-linked, autosomal recessive and autosomal dominant inheritance have been found in different pedigrees. The X-linked form of the disease is due to mutations in the gene DKC1 in band 2, sub-band 8 of the long arm of the X chromosome (ref. 3). The affected protein, dyskerin, is a nucleolar protein that is found associated with the H/ACA class of small nucleolar RNAs and is involved in pseudo-uridylation of specific residues of ribosomal RNA4. Dyskerin is also associated with telomerase RNA (hTR)5, which contains a H/ACA consensus sequence6,7. Here we map the gene responsible for dyskeratosis congenita in a large pedigree with autosomal dominant inheritance. Affected members of this family have an 821-base-pair deletion on chromosome 3q that removes the 3′ 74 bases of hTR. Mutations in hTR were found in two other families with autosomal dominant dyskeratosis congenita.

Date: 2001
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DOI: 10.1038/35096585

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