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, Evans, D. Gareth, Schrander-Stumpel, Connie, Beemer, Frits A., van den Ouweland, Ans, Halley, Dicky, Delpech, Bertrand, Cleveland, Mark G., Jaakko, Irene Leigh, Rasmussen, Leisti 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 and Stratton, Michael R. (2000) Identification of the familial cylindromatosis tumour-suppressor gene. Nature Genetics, 25 2: 160-165. doi:10.1038/76006

Author 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
Evans, D. Gareth
Schrander-Stumpel, Connie
Beemer, Frits A.
van den Ouweland, Ans
Halley, Dicky
Delpech, Bertrand
Cleveland, Mark G.
Jaakko, Irene Leigh
Rasmussen, Leisti 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.
Title Identification of the familial cylindromatosis tumour-suppressor gene
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2000-06
Sub-type Article (original research)
DOI 10.1038/76006
Volume 25
Issue 2
Start page 160
End page 165
Total pages 6
Place of publication New York, NY, United States
Publisher Nature Publishing Group
Language eng
Formatted 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).
Keyword Saccharomyces-cerevisiae
Dynactin complex
DNA fragments
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 395 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 425 times in Scopus Article | Citations
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