Identification of the familial cylindromatosis tumour-suppressor gene

被引：570

作者：

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

Evans, DG

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 ^{[1
]}

机构：

[1] Inst Canc Res, Sect Canc Genet, Sutton, Surrey, England

[2] Inst Canc Res, Breakthrough Breast Canc Res Ctr, London SW3 6JB, England

[3] UCL, Royal Free & Univ Coll, Sch Med, Dept Histopathol, London, England

[4] OHSU, Dept Surg, Portland, OR USA

[5] Oxford Radcliffe Hosp Trust, Dept Clin Genet, Oxford, England

[6] Univ Dusseldorf, Hautklin Med Einrichtungen, D-4000 Dusseldorf, Germany

[7] Univ Kiel, Dept Human Genet, Kiel, Germany

[8] Dept Clin Genet, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England

[9] St Marys Hosp, Cent Manchester Healthcare NHS Trust, Reg Genet Serv, Manchester, Lancs, England

[10] Acad Hosp Maastricht, Dept Clin Genet, Maastricht, Netherlands

[11] Univ Utrecht, Med Ctr, Dept Med Genet, Utrecht, Netherlands

[12] Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands

[13] Ctr Henri Becquerel, Oncol Mol Lab, UPRES EA 2122, Grp Rech Inflammat & Canc, F-76038 Rouen, France

[14] Univ Iowa, Dept Dermatol, Iowa City, IA USA

[15] St Bartholomews & Royal London Sch Med & Dent, Ctr Cutaneous Res, London, England

[16] Oulu Univ, Cent Hosp, Dept Clin Genet, SF-90220 Oulu, Finland

[17] Univ Florida, Coll Med, Div Genet, Gainesville, FL USA

[18] St George Hosp, Sch Med, Dept Med Genet, London, England

[19] Osaka City Univ, Sch Med, Dept Dermatol, Abeno Ku, Osaka 545, Japan

[20] Ludwig Inst Canc Res, London W1P 8BT, England

[21] Royal Victoria Infirm, Dept Histopathol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England

[22] Hop Beaumont, CHUV, Serv Dermatol, Lausanne, Switzerland

[23] Univ Newcastle, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England

来源：

NATURE GENETICS | 2000年 / 25卷 / 02期

关键词：

D O I：

10.1038/76006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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).

引用

页码：160 / 165

页数：6

共 27 条

[1]

Abenoza P, 1990, NEOPLASMS ECCRINE DI

[2]

Antonarakis SE, 1998, HUM MUTAT, V11, P1

[3] BIK1, A PROTEIN REQUIRED FOR MICROTUBULE FUNCTION DURING MATING AND MITOSIS IN SACCHAROMYCES-CEREVISIAE, COLOCALIZES WITH TUBULIN [J].