Cited by 960Telomeres, Telomerase, and SenescenceBlood disorders and treatmentsNuclear Structure and Function

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

Vulliamy, Tom, Marrone, Anna, Goldman, Frederick, Dearlove, Andrew, Bessler, Monica, Mason, Philip J., Dokal, Inderjeet·2001·Nature

DOI 10.1038/35096585

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Abstract

Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation, leukoplakia and nail dystrophy. 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 RNA. Dyskerin is also associated with telomerase RNA (hTR), which contains a H/ACA consensus sequence. 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.

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Authors: Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P. J., & Dokal, I.
Affiliations: Hammersmith Hospital (GB)
University of Iowa Hospitals and Clinics (US)
Washington University in St. Louis (US)
Corresponding author: Mason, Philip J.
ORCID: Goldman, Frederick
Dokal, Inderjeet
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2001-09-27
Volume: 413
Issue: 6854
Pages: 432-435
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/35096585
OpenAlex: W2044758458
Cited by: 960
References: 30
Citations by year: 2026: 7 · 2025: 13 · 2024: 14 · 2023: 18 · 2022: 20 · 2021: 19 · 2020: 31 · 2019: 18 · 2018: 29 · 2017: 19 · 2016: 37 · 2015: 33 · 2014: 43 · 2013: 32 · 2012: 40
FWCI: 35.53
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
RePEc: Research Papers in Economics (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Telomeres, Telomerase, and Senescence
Health Sciences › Medicine › Hematology › Blood disorders and treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
Keywords: dyskeratosis congenita, telomerase RNA, hTR, autosomal dominant inheritance, bone marrow failure, dyskerin, telomerase, gene mapping
MeSH terms: Cell Line, Chromosome Mapping, Chromosomes, Human, Pair 3, DNA Mutational Analysis, Female, Genes, Dominant, Humans, Genetic Linkage, Male, Mutation, Pedigree, RNA, Telomere, Point Mutation, Telomerase, Dyskeratosis Congenita

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

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