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Identification of the familial cylindromatosis tumour-suppressor gene.

Nature genetics (2000-06-03)
G R Bignell, W Warren, S Seal, M Takahashi, E Rapley, R Barfoot, H Green, C Brown, P J Biggs, S R Lakhani, C Jones, J Hansen, E Blair, B Hofmann, R Siebert, G Turner, D G Evans, C Schrander-Stumpel, F A Beemer, A van Den Ouweland, D Halley, B Delpech, M G Cleveland, I Leigh, J Leisti, S Rasmussen
PMID10835629
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).