File
Authors
Keywords
β-catenin
cholangiocarcinoma
deletion
exon 3
mutation
Abstract
The molecular pathogenesis of cholangiocarcinoma (CC) remains unclear. β-Catenin functions in both intercellular adhesion and signal transduction. As a signaling molecule, mutations in exon 3 of the β-catenin gene encoding the regions phosphorylated by glycogen synthase kinase (GSK)-3β stabilize this protein in cytoplasm. Subsequently, accumulated β-catenin protein translocates to nuclei and up-regulates the transcriptional activity of genes involved in oncogenesis. Recently, mutations in exon 3 of the β-catenin gene were detected in various carcinomas. Using polymerase chain reaction (PCR)-single-strand conformational polymorphism (SSCP) analysis, direct sequencing and subcloning-sequencing, we investigated mutations of exon 3 of the β-catenin gene in CC. Mutations were found in 26 out of 33 (78.8%) CC tumor samples. All of the mutations were heterozygous 1-base deletions at codon 15, resulting in a stop codon at codon 46. This is the first study demonstrating the presence of β-catenin gene mutations in CC. However, it was suggested that this mutation might not be involved in deregulation of β-catenin signaling, because no correlation was observed between the β-catenin mutation and immunolocalization of β-catenin protein.
Publisher
Tottori University Faculty of Medicine
Content Type
Journal Article
ISSN・ISBN
1346-8049
NCID
AA00892882
Journal Title
Yonago Acta medica
Current Journal Title
Yonago Acta medica
Volume
44
Issue
2
Start Page
107
End Page
114
Published Date
2001-07
Text Version
Publisher
Rights
Yonago Acta medica 編集委員会
Citation
Yonago Acta medica. 2001, 44(2), 107-114
Department
Faculty of Medicine/Graduate School of Medical Sciences/University Hospital
Language
English