The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
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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“Indeed, defects in telomerase activity due to germ-line mutations in core telomerase components are linked to the premature loss of tissue renewal and premature death, such as dyskeratosis congenita,9 aplastic anemia10 and idiopathic pulmonary fibrosis.11”
From TERT activation targets DNA methylation and multiple aging hallmarks (2024) · cites this paper as [9]
In the citing paper
“Insufficient telomerase activity, stemming from low telomerase reverse transcriptase (TERT) gene transcription, contributes to telomere dysfunction and aging pathologies.”
From TERT activation targets DNA methylation and multiple aging hallmarks (2024) · cites this paper as [9]
In the citing paper
“They manifest in an autosomal-dominant inheritance pattern because complete or partial loss-of-function of one allele is sufficient to perturb telomere maintenance38,39,41.”
From The telomere syndromes (2012) · cites this paper as [38]
In the citing paper
“Eight mutant genes have been identified in dyskeratosis congenita9,38,39,60–64, and all of them encode telomerase or telomere protein components (summarized in Table 1).”
From The telomere syndromes (2012) · cites this paper as [38]
In the citing paper
“Dyskeratosis congenita is characterized by the short telomere defect11,38,55.”
From The telomere syndromes (2012) · cites this paper as [38]
In the citing paper
“Multiple different mutations in TERC have been described for patients with DKC (10).”
From Adult-onset pulmonary fibrosis caused by mutations in telomerase (2007) · cites this paper as [10]
In the citing paper
“The individuals with TERT or TERC mutations have none of the physical manifestations of DKC and were all ascertained by the lung fibrosis phenotype, distinguishing them from previously described patients with mutations in these genes (6, 9, 10, 17).”
From Adult-onset pulmonary fibrosis caused by mutations in telomerase (2007) · cites this paper as [10]
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Self-citation
Metadata
- 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.
- Venue
- Nature
- Published
- 2001-09-27
- Volume
- 413
- Issue
- 6854
- Pages
- 432-435
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- 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
- 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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