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Determination of the tumor suppressor properties of INI-1 in a human cancer cell line

Austin, Trinity

Rhabdoid tumors have historically been characterized by their histological phenotype, but genetic investigations have revealed a common characteristic: the loss or mutation of the INI-1 gene. INI-1 (SMARCB1) is a tumor suppressor gene located at 22q11.2 which encodes a subunit of the SWI/SNF chromatin remodeling complex. Originally identified in the Atypical Teratoid Rhabdoid Tumor (AT/RT) found in pediatric patients, they have been implicated in the pathogenesis of numerous tumor types. However, few, if any, studies have investigated the actual tumor suppressing properties of this gene. The goal of this study is to investigate and determine if the deletion of the INI-1 gene within the human genome leads to a tumorigenic phenotype which can be identified in future studies using assays measuring cell proliferation and growth. This report details the creation of INI-1 deficient cell lines that can be used in future studies. These experiments aim to establish a causal relationship between INI-1 loss and tumor progression and eventually assist with the development of therapies to treat INI-1 deficient tumors.