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

503 Citations (Scopus)

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
Externally publishedYes

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Tumor Suppressor Genes
Ubiquitin Thiolesterase
Adenoid Cystic Carcinoma
Mutation
Cytoskeletal Proteins
Germ-Line Mutation
Genetic Predisposition to Disease
Sequence Homology
Microtubules
Organelles
Glycine
Catalytic Domain
Proteins
Chromosomes
Skin
Genes
Neoplasms
Familial cylindromatosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Bignell, G. R., Warren, W., Seal, S., Takahashi, M., Rapley, E., Barfoot, R., ... Stratton, M. R. (2000). Identification of the familial cylindromatosis tumour-suppressor gene. Nature Genetics, 25(2), 160-165. https://doi.org/10.1038/76006

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

In: Nature Genetics, Vol. 25, No. 2, 06.2000, p. 160-165.

Research output: Contribution to journalArticle

Bignell, GR, Warren, W, Seal, S, Takahashi, M, Rapley, E, Barfoot, R, Green, H, Brown, C, Biggs, PJ, Lakhani, SR, Jones, C, Hansen, J, Blair, E, Hofmann, B, Siebert, R, Turner, G, Gareth Evans, D, Schrander-Stumpel, C, Beemer, FA, Van Den Ouweland, A, Halley, D, Delpech, B, Cleveland, MG, Leigh, I, Leisti, J, Rasmussen, S, Wallace, MR, Fenske, C, Banerjee, P, Oiso, N, Chaggar, R, Merrett, S, Leonard, N, Huber, M, Hohl, D, Chapman, P, Burn, J, Swift, S, Smith, A, Ashworth, A & Stratton, MR 2000, 'Identification of the familial cylindromatosis tumour-suppressor gene', Nature Genetics, vol. 25, no. 2, pp. 160-165. https://doi.org/10.1038/76006
Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R et al. Identification of the familial cylindromatosis tumour-suppressor gene. Nature Genetics. 2000 Jun;25(2):160-165. https://doi.org/10.1038/76006
Bignell, Graham R. ; Warren, William ; Seal, Sheila ; Takahashi, Meiko ; Rapley, Elizabeth ; Barfoot, Rita ; Green, Helen ; Brown, Carolanne ; Biggs, Patrick J. ; Lakhani, Sunil R. ; Jones, Christopher ; Hansen, Juliana ; Blair, Edward ; Hofmann, Benedikt ; Siebert, Reiner ; Turner, Gwen ; Gareth Evans, D. ; Schrander-Stumpel, Connie ; Beemer, Frits A. ; Van Den Ouweland, Ans ; Halley, Dicky ; Delpech, Bertrand ; Cleveland, Mark G. ; Leigh, Irene ; Leisti, Jaakko ; Rasmussen, Sonja ; Wallace, Margaret R. ; Fenske, Christiane ; Banerjee, Piu ; Oiso, Naoki ; Chaggar, Ranbir ; Merrett, Samantha ; Leonard, Niamh ; Huber, Marcel ; Hohl, Daniel ; Chapman, Pam ; Burn, John ; Swift, Sally ; Smith, Anna ; Ashworth, Alan ; Stratton, Michael R. / Identification of the familial cylindromatosis tumour-suppressor gene. In: Nature Genetics. 2000 ; Vol. 25, No. 2. pp. 160-165.
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