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

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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)

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.

Suggested Citation

  • Tom Vulliamy & Anna Marrone & Frederick Goldman & Andrew Dearlove & Monica Bessler & Philip J. Mason & Inderjeet Dokal, 2001. "The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita," Nature, Nature, vol. 413(6854), pages 432-435, September.
  • Handle: RePEc:nat:nature:v:413:y:2001:i:6854:d:10.1038_35096585
    DOI: 10.1038/35096585
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    Cited by:

    1. Angela M. Hinchie & Samantha L. Sanford & Kelly E. Loughridge & Rachel M. Sutton & Anishka H. Parikh & Agustin A. Gil Silva & Daniel I. Sullivan & Pattra Chun-On & Matthew R. Morrell & John F. McDyer , 2024. "A persistent variant telomere sequence in a human pedigree," Nature Communications, Nature, vol. 15(1), pages 1-16, December.
    2. Santiago E. Sanchez & Yuchao Gu & Yan Wang & Anudeep Golla & Annika Martin & William Shomali & Dirk Hockemeyer & Sharon A. Savage & Steven E. Artandi, 2024. "Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease," Nature Communications, Nature, vol. 15(1), pages 1-11, December.

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