Genomic structure of the human ING1 gene and tumor-specific mutations detected in head and neck squamous cell carcinomas

• Published in: Cancer research (Chicago, Ill.) Vol. 60; no. 12; pp. 3143 - 3146
• Main Authors: GUNDUZ, M, OUCHIDA, M, FUKUSHIMA, K, HANAFUSA, H, ETANI, T, NISHIOKA, S, NISHIZAKI, K, SHIMIZU, K
• Format: Journal Article
• Language: English
• Published: Philadelphia, PA American Association for Cancer Research 15-06-2000
• Subjects: Biological and medical sciences; Carcinoma, Squamous Cell - genetics; Cell Cycle Proteins; chromosome 13; Chromosomes, Human, Pair 13; DNA-Binding Proteins; Exons; Genes, Tumor Suppressor; Head and Neck Neoplasms - genetics; Humans; ING1 gene; ING1 protein; Inhibitor of Growth Protein 1; Intracellular Signaling Peptides and Proteins; Loss of Heterozygosity; Luciferases - metabolism; Medical sciences; Microsatellite Repeats; Models, Genetic; Mutation, Missense; Nuclear Proteins; Otorhinolaryngology (head neck, general aspects and miscellaneous); Otorhinolaryngology. Stomatology; Polymorphism, Single-Stranded Conformational; Promoter Regions, Genetic; Proteins - genetics; Tumor Suppressor Proteins; Tumors; Surgical biopsy; Human; Squamous cell carcinoma; Long arm; Zinc finger structure; Tumoral tissue; Silent allele; Gene organization; Malignant tumor; In vitro; Exon; Missense mutation; Loss of heterozygosity; Head and neck; ENT disease; Chromosome 13; Tumor suppressor gene
• ISSN: 0008-5472; 1538-7445

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.