Identification of the familial cylindromatosis tumour-suppressor gene.

Details

Serval ID
serval:BIB_B915C6791240
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Identification of the familial cylindromatosis tumour-suppressor gene.
Journal
Nature Genetics
Author(s)
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., Evans D.G., Schrander-Stumpel C., Beemer F.A., van Den Ouweland A., Halley D., Delpech B., Cleveland M.G., Leigh I., Leisti J., Rasmussen S.
ISSN
1061-4036
Publication state
Published
Issued date
2000
Peer-reviewed
Oui
Volume
25
Number
2
Pages
160-165
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
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).
Keywords
Amino Acid Sequence, Catalytic Domain, Chromosomes, Human, Pair 16/genetics, Cloning, Molecular, Contig Mapping, Exons/genetics, Female, Genes, Dominant/genetics, Genes, Tumor Suppressor/genetics, Genetic Predisposition to Disease/genetics, Germ-Line Mutation/genetics, Humans, Loss of Heterozygosity/genetics, Male, Molecular Sequence Data, Mutation/genetics, Neoplasms, Multiple Primary/genetics, Neoplasms, Multiple Primary/pathology, Polymorphism, Genetic/genetics, Proteins/chemistry, Proteins/genetics, RNA, Messenger/analysis, RNA, Messenger/genetics, Sequence Homology, Amino Acid, Sequence Tagged Sites, Skin Neoplasms/genetics, Skin Neoplasms/pathology, Thiolester Hydrolases/chemistry, Tumor Suppressor Proteins, Ubiquitin Thiolesterase
Pubmed
Web of science
Create date
25/01/2008 16:35
Last modification date
20/08/2019 15:27
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