Cited by 316Telomeres, Telomerase, and SenescenceBlood disorders and treatmentsNuclear Structure and Function

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Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

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Walne, Amanda J., Vulliamy, Tom, Marrone, Anna, Beswick, Richard, Kirwan, Michael, Masunari, Yuka, Al-Qurashi, Fat-hia, Aljurf, Mahmoud, Dokal, Inderjeet·2007·Human Molecular Genetics

DOI 10.1093/hmg/ddm111PMC PMC2882227

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Abstract

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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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.
ORCID: Walne, Amanda J.
Aljurf, Mahmoud
Dokal, Inderjeet
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
DOI: 10.1093/hmg/ddm111
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: 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, 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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Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

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