Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
Open accessAbstract
Dyskeratosis congenita (DC) is characterized by multiple features including mucocutaneous abnormalities, bone marrow failure and an increased predisposition to cancer. It exhibits marked clinical and genetic heterogeneity. DKC1 encoding dyskerin, a component of H/ACA small nucleolar ribonucleoprotein (snoRNP) particles is mutated in X-linked recessive DC. Telomerase RNA component (TERC), the RNA component and TERT the enzymatic component of telomerase, are mutated in autosomal dominant DC, suggesting that DC is primarily a disease of defective telomere maintenance. The gene(s) involved in autosomal recessive DC remains elusive. This paper describes studies aimed at defining the genetic basis of AR-DC. Homozygosity mapping in 16 consanguineous families with 25 affected individuals demonstrates that there is no single genetic locus for AR-DC. However, we show that NOP10, a component of H/ACA snoRNP complexes including telomerase is mutated in a large consanguineous family with classical DC. Affected homozygous individuals have significant telomere shortening and reduced TERC levels. While a reduction of TERC levels is not a universal feature of DC, it can be brought about through a reduction of NOP10 transcripts, as demonstrated by siRNA interference studies. A similar reduction in TERC levels is also seen when the mutant NOP10 is expressed in HeLa cells. These findings identify the genetic basis of one subtype of AR-DC being due to the first documented mutations in NOP10. This further strengthens the model that defective telomere maintenance is the primary pathology in DC and substantiates the evidence in humans for the involvement of NOP10 in the telomerase complex and telomere maintenance.
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Autosomal dominant DC is caused by mutations in TERT, TERC or TRF1-interacting nuclear factor 2.
“Autosomal dominant forms are caused by mutations in TERT, TERC or the telomere binding protein TRF1-interacting nuclear factor 2 (156-159).”
From Telomeres and telomerase in cancer (2010) · cites this paper as [159]
Eight genes have been found mutated in dyskeratosis congenita, and every one encodes a telomerase or telomere protein component.
“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 [61]
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- Authors
- Walne, A. J., Vulliamy, T., Marrone, A., Beswick, R., Kirwan, M., Masunari, Y., Al-Qurashi, F.-H., Aljurf, M., & Dokal, I.
- Affiliations
- Queen Mary University of London (GB)
- King Faisal Specialist Hospital & Research Centre (SA)
- Corresponding author
- Walne, Amanda J.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2007-05-16
- Volume
- 16
- Issue
- 13
- Pages
- 1619-1629
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC2882227
- OpenAlex
- W2107042037
- Cited by
- 316
- References
- 45
- Citations by year
- 2026: 6 · 2025: 8 · 2024: 12 · 2023: 10 · 2022: 12 · 2021: 9 · 2020: 21 · 2019: 7 · 2018: 19 · 2017: 9 · 2016: 13 · 2015: 21 · 2014: 19 · 2013: 22 · 2012: 16
- FWCI
- 19.01
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Wellcome Trust (069399)
- Medical Research Council
- Topics
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Keywords
- dyskeratosis congenita, NOP10, telomerase, telomere maintenance, telomere shortening, consanguinity, homozygosity mapping, genetic heterogeneity, siRNA knockdown
- MeSH terms
- Adolescent, Adult, Amino Acid Sequence, Consanguinity, Genetic Markers, HeLa Cells, Homozygote, Humans, Genetic Linkage, Molecular Sequence Data, Mutation, Pedigree, Telomere, Telomerase, Dyskeratosis Congenita, Ribonucleoproteins, Small Nucleolar, RNA, Small Interfering
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