Identification of the familial cylindromatosis tumour-suppressor gene.
Nat Genet
; 25(2): 160-5, 2000 Jun.
Article
em En
| MEDLINE
| ID: mdl-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).
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Base de dados:
MEDLINE
Assunto principal:
Neoplasias Cutâneas
/
Proteínas
/
Genes Supressores de Tumor
/
Predisposição Genética para Doença
/
Proteínas Supressoras de Tumor
/
Neoplasias Primárias Múltiplas
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Reino Unido