title: Genomic structure of the human ING1 gene and tumor-specific mutations detected in head and neck squamous cell carcinomas.
abstract: We characterized the genomic structure of the human ING1 gene, a candidate tumor suppressor gene, and found that the gene has three exons. We also demonstrated that four mRNA variants were transcribed from three different promoter regions. Of 34 informative cases of head and neck squamous cell carcinoma, 68% of tumors showed loss of heterozygosity at chromosome 13q33-34, where the ING1 gene is located. Here we present the first report that three missense mutations and three silent changes were detected in the ING1 gene in 6 of 23 tumors with allelic loss at the 13q33-34 region. These missense mutations were found within the PHD finger domain and nuclear localization motif in ING1 protein, probably abrogating the normal function.
authors.affiliation: Department of Otolaryngology, Okayama University Medical School, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Gunduz
authors.forename: M
authors.initials: M
authors.lastname: Ouchida
authors.forename: K
authors.initials: K
authors.lastname: Fukushima
authors.forename: H
authors.initials: H
authors.lastname: Hanafusa
authors.forename: T
authors.initials: T
authors.lastname: Etani
authors.forename: S
authors.initials: S
authors.lastname: Nishioka
authors.forename: K
authors.initials: K
authors.lastname: Nishizaki
authors.forename: K
authors.initials: K
authors.lastname: Shimizu
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D018797:Cell Cycle Proteins; D002882:Chromosomes, Human, Pair 13; D004268:DNA-Binding Proteins; D005091:Exons; D016147:Genes, Tumor Suppressor; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D000076023:Inhibitor of Growth Protein 1; D047908:Intracellular Signaling Peptides and Proteins; D019656:Loss of Heterozygosity; D008156:Luciferases / Q000378:metabolism; D018895:Microsatellite Repeats; D008957:Models, Genetic; D020125:Mutation, Missense; D009687:Nuclear Proteins; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic; D011506:Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C501503:ING1 protein, human; D000076023:Inhibitor of Growth Protein 1; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D011506:Proteins; D025521:Tumor Suppressor Proteins; D008156:Luciferases