title: Detection of a novel alteration of the Axin gene in various pediatric neoplasms.
abstract: The Wnt signaling pathway is conserved in various species from worms to mammals, and plays critical roles in development, cellular proliferation and differentiation. As part of Wnt signal transduction, the function of the Axin complex is inhibited, leading to the accumulation of beta-catenin protein. Axin gene mutations have been detected in several kinds of human cancers. In this study, we investigated Axin gene alterations in a series of 58 pediatric neoplasms including neuroblastomas, teratomas, rhabdomyosarcomas. Forty-eight non-tumor tissues were used as a control series to compare gene alterations and their frequencies between tumors and normal tissues. The whole coding region of the Axin gene was examined by PCR-SSCP method using 24 sets of the primers. Samples revealing aberrant band patterns were subjected to direct sequencing analysis. In total, we identified six variants in the exons and four intronic nucleotide substitutions in the tumor series. Similar sequence variants except a rare sequence variant at codon 98 (CCG right curved arrow CTG) were observed in the control series and these were regarded as non-pathogenetic polymorphisms. Our results indicated that a tumor-associated mutation of the Axin gene is generally a rare event in our series of pediatric neoplasms.
authors.affiliation: Department of Pediatric Surgery, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
authors.forename: Jiangyong
authors.initials: J
authors.lastname: Miao
authors.forename: Takeshi
authors.initials: T
authors.lastname: Kusafuka
authors.forename: Akira
authors.initials: A
authors.lastname: Okada
mesh_terms: D060466:Axin Protein; D001483:Base Sequence; D002455:Cell Division; D045744:Cell Line, Tumor; D002648:Child; D003062:Codon; D003598:Cytoskeletal Proteins / Q000378:metabolism; D005091:Exons; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D009369:Neoplasms / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D015398:Signal Transduction; D015534:Trans-Activators / Q000378:metabolism; D051176:beta Catenin
chemical_list: D060466:Axin Protein; C495270:CTNNB1 protein, human; D003062:Codon; D003598:Cytoskeletal Proteins; D012097:Repressor Proteins; D015534:Trans-Activators; D051176:beta Catenin