Journal article
Identification of the familial cylindromatosis tumour-suppressor gene
Nature genetics, Vol.25(2), pp.160-165
06/2000
DOI: 10.1038/76006
PMID: 10835629
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).
Details
- Title: Subtitle
- Identification of the familial cylindromatosis tumour-suppressor gene
- Creators
- Graham R. Bignell - Institute of Cancer ResearchWilliam Warren - Institute of Cancer ResearchSheila Seal - Institute of Cancer ResearchMeiko Takahashi - Institute of Cancer ResearchElizabeth Rapley - Institute of Cancer ResearchRita Barfoot - Institute of Cancer ResearchHelen Green - Institute of Cancer ResearchCarolanne Brown - Institute of Cancer ResearchPatrick J. Biggs - Institute of Cancer ResearchSunil R. Lakhani - The Royal Free HospitalChristopher Jones - Korean Breast Cancer SocietyJuliana Hansen - Oregon Health & Science UniversityEdward Blair - Churchill HospitalBenedikt Hofmann - Heinrich Heine University DüsseldorfReiner Siebert - Christian-Albrechts-Universität zu KielGwen Turner - Department of Human Genetics, University of Kiel, GermanyD Gareth Evans - Yorkshire Regional Genetics Service, Department of Clinical Genetics, United KingdomConnie Schrander-Stumpel - Maastricht University Medical CentreFrits A. Beemer - University Medical Center UtrechtAns Van Den Ouweland - Erasmus University RotterdamDicky Halley - Erasmus University RotterdamBertrand Delpech - Centre Henri BecquerelMark G. Cleveland - University of IowaIrene Leigh - Centre for Cutaneous Research, St Bartholomew's and the Royal London School of Medicine and Dentistry, United KingdomJaakko Leisti - University of OuluSonja Rasmussen - Florida CollegeMargaret R. Wallace - University of FloridaChristiane Fenske - St George's, University of LondonPiu Banerjee - St George's, University of LondonNaoki Oiso - Osaka City UniversityRanbir Chaggar - Ludwig Cancer ResearchSamantha Merrett - Ludwig Cancer ResearchNiamh Leonard - Royal Victoria InfirmaryMarcel Huber - Hôpital de BeaumontDaniel Hohl - Hôpital de BeaumontPam Chapman - Newcastle UniversityJohn Burn - Newcastle UniversitySally Swift - Institute of Cancer ResearchAnna Smith - Institute of Cancer ResearchAlan Ashworth - Institute of Cancer ResearchMichael R. Stratton - Institute of Cancer Research
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.25(2), pp.160-165
- DOI
- 10.1038/76006
- PMID
- 10835629
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Number of pages
- 6
- Grant note
- Cancer Research Campaign
- Language
- English
- Date published
- 06/2000
- Academic Unit
- Dermatology
- Record Identifier
- 9985164051702771
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