A Novel Heterozygous Mutation (F252Y) in Exon 7 of the IRF6 Gene is Associated with Oral Squamous Cell Carcinomas

Melath, Anil; Santhakumar, Gopi Krishnan; Madhavannair, Shyam Sunder; Nedumgottil, Binoy Mathews; Ramanathan, Arvind

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저자정보: Melath, Anil (Department of Periodontology, Mahe Institute of Dental Sciences, Union Territory of Pondichery) Santhakumar, Gopi Krishnan (Department of Orthodontics, Mahe Institute of Dental Sciences, Union Territory of Pondichery) Madhavannair, Shyam Sunder (Department of Oral and Maxillofacial Surgery, Mahe Institute of Dental Sciences, Union Territory of Pondichery) Nedumgottil, Binoy Mathews (Department of Prosthodontics, Mahe Institute of Dental Sciences, Union Territory of Pondichery) Ramanathan, Arvind (Human Genetics Laboratory, Sree Balaji Medical and Dental College and Hospital, Bharath University)

저널정보: 아시아태평양암예방학회 Asian Pacific journal of cancer prevention : APJCP Asian Pacific journal of cancer prevention : APJCP 제14권 제11호

발행연도: 2013.1

수록면: 6,803 - 6,806 (4page)

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Background: Interferon regulatory factor 6 (IRF6) is a transcription factor with distinct and conserved DNA and protein binding domains. Mutations within the protein binding domain have been significantly observed in subjects with orofacial cleft relative to healthy controls. In addition, recent studies have identified loss of expression of IRF6 due to promoter hypermethylation in cutaneous squamous cell carcinomas. Since mutational events occurring within the conserved domains are likely to affect the function of a protein, we investigated whether regions within the IRF6 gene that encodes for the conserved protein binding domain carried mutations in oral squamous cell carcinoma (OSCC). Materials and Methods: Total chromosomal DNA extracted from 32 post surgical OSCC tissue samples were amplified using intronic primers flanking the exon 7 of IRF6 gene, which encodes for the major region of protein binding domain. The PCR amplicons from all the samples were subsequently resolved in a 1.2% agarose gel, purified and subjected to direct sequencing to screen for mutations. Results: Sequencing analysis resulted in the identification of a mutation within exon 7 of IRF6 that occurred in heterozygous condition in 9% (3/32) of OSCC samples. The wild type codon TTC at position 252 coding for phenylalanine was found to be mutated to TAC that coded for tyrosine (F252Y). Conclusions: The present study identified for the first time a novel mutation within the conserved protein binding domain of IRF6 gene in tissue samples of subjects with OSCC.

#IRF6 #IRF6 mutation #IRF6 mutation in oral cancer #IRF6 mutation in Indian cancer

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Melath, Anil

소속기관 Department of Periodontology, Mahe Institute of Dental Sciences, Union Territory of Pondichery