Identification of the familial cylindromatosis tumour-suppressor gene

Graham R. Bignell, William Warren, Sheila Seal, Meiko Takahashi, Elizabeth Rapley, Rita Barfoot, Helen Green, Carolanne Brown, Patrick J. Biggs, Sunil R. Lakhani, Christopher Jones, Juliana Hansen, Edward Blair, Benedikt Hofmann, Reiner Siebert, Gwen Turner, D. Gareth Evans, Connie Schrander-Stumpel, Frits A. Beemer, Ans Van Den OuwelandDicky Halley, Bertrand Delpech, Mark G. Cleveland, Irene Leigh, Jaakko Leisti, Sonja Rasmussen, Margaret R. Wallace, Christiane Fenske, Piu Banerjee, Naoki Oiso, Ranbir Chaggar, Samantha Merrett, Niamh Leonard, Marcel Huber, Daniel Hohl, Pam Chapman, John Burn, Sally Swift, Anna Smith, Alan Ashworth, Michael R. Stratton

    Research output: Contribution to journalArticle

    522 Scopus citations

    Abstract

    Familial cylindromatosis is an autosomal dominant genetic predisposition to multiple tumours of the skin appendages. The susceptibility gene (CYLD) has previously been localized to chromosome 16q and has the genetic attributes of a tumour-suppressor gene (recessive oncogene). Here we have identified CYLD by detecting germline mutations in 21 cylindromatosis families and somatic mutations in 1 sporadic and 5 familial cylindromas. All mutations predict truncation or absence of the encoded protein. CYLD encodes three cytoskeletal-associated-protein-glycine-conserved (CAP-GLY) domains, which are found in proteins that coordinate the attachment of organelles to microtubules. CYLD also has sequence homology to the catalytic domain of ubiquitin carboxy-terminal hydrolases (UCH).

    Original languageEnglish (US)
    Pages (from-to)160-165
    Number of pages6
    JournalNature genetics
    Volume25
    Issue number2
    DOIs
    StatePublished - Jun 2000

    ASJC Scopus subject areas

    • Genetics

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  • Cite this

    Bignell, G. R., Warren, W., Seal, S., Takahashi, M., Rapley, E., Barfoot, R., Green, H., Brown, C., Biggs, P. J., Lakhani, S. R., Jones, C., Hansen, J., Blair, E., Hofmann, B., Siebert, R., Turner, G., Gareth Evans, D., Schrander-Stumpel, C., Beemer, F. A., ... Stratton, M. R. (2000). Identification of the familial cylindromatosis tumour-suppressor gene. Nature genetics, 25(2), 160-165. https://doi.org/10.1038/76006