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 Ouweland; Dicky 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

doi:10.1038/76006

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

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603 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 language	English (US)
Pages (from-to)	160-165
Number of pages	6
Journal	Nature genetics
Volume	25
Issue number	2
DOIs	https://doi.org/10.1038/76006
State	Published - Jun 2000
Externally published	Yes

ASJC Scopus subject areas

Genetics

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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

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

@article{a722a45dcd754a5ea9cca45c314a31a7,

title = "Identification of the familial cylindromatosis tumour-suppressor gene",

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).",

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

note = "Funding Information: We thank the families for cooperation; the Institute of Cancer Research Gene Cloning Laboratory and R. Warren for assistance; D. Cooke, P. Itin, D. Schorderet and the many other clinicians for ascertaining families; HGMP for provision of PAC library filters; North Cumbria Community Genetics Project for control DNA samples; and E. Peacock for help in preparing the manuscript. G.T., P.C. and J.B. are members of the ICRF Clinical Genetics Network. The work was supported by the Cancer Research Campaign.",

year = "2000",

month = jun,

doi = "10.1038/76006",

language = "English (US)",

volume = "25",

pages = "160--165",

journal = "Nature genetics",

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T1 - Identification of the familial cylindromatosis tumour-suppressor gene

AU - Bignell, Graham R.

AU - Warren, William

AU - Seal, Sheila

AU - Takahashi, Meiko

AU - Rapley, Elizabeth

AU - Barfoot, Rita

AU - Green, Helen

AU - Brown, Carolanne

AU - Biggs, Patrick J.

AU - Lakhani, Sunil R.

AU - Jones, Christopher

AU - Hansen, Juliana

AU - Blair, Edward

AU - Hofmann, Benedikt

AU - Siebert, Reiner

AU - Turner, Gwen

AU - Gareth Evans, D.

AU - Schrander-Stumpel, Connie

AU - Beemer, Frits A.

AU - Van Den Ouweland, Ans

AU - Halley, Dicky

AU - Delpech, Bertrand

AU - Cleveland, Mark G.

AU - Leigh, Irene

AU - Leisti, Jaakko

AU - Rasmussen, Sonja

AU - Wallace, Margaret R.

AU - Fenske, Christiane

AU - Banerjee, Piu

AU - Oiso, Naoki

AU - Chaggar, Ranbir

AU - Merrett, Samantha

AU - Leonard, Niamh

AU - Huber, Marcel

AU - Hohl, Daniel

AU - Chapman, Pam

AU - Burn, John

AU - Swift, Sally

AU - Smith, Anna

AU - Ashworth, Alan

AU - Stratton, Michael R.

N1 - Funding Information: We thank the families for cooperation; the Institute of Cancer Research Gene Cloning Laboratory and R. Warren for assistance; D. Cooke, P. Itin, D. Schorderet and the many other clinicians for ascertaining families; HGMP for provision of PAC library filters; North Cumbria Community Genetics Project for control DNA samples; and E. Peacock for help in preparing the manuscript. G.T., P.C. and J.B. are members of the ICRF Clinical Genetics Network. The work was supported by the Cancer Research Campaign.

PY - 2000/6

Y1 - 2000/6

N2 - 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).

AB - 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).

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VL - 25

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EP - 165

JO - Nature genetics

JF - Nature genetics

IS - 2

ER -

Identification of the familial cylindromatosis tumour-suppressor gene

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