Identification of PTEN Modifier Genes Using the Collaborative Cross Mouse Panel
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Inactivation or mutation of phosphatase and tensin homolog (PTEN), a tumor suppressor gene, is implicated in unregulated cell proliferation, leading to tumor growth and the development of cancer. Identification of modifier genes, genes that alter the phenotype of another gene, of PTEN and their role in altering PTEN activity could provide insights into relationship between PTEN and cancer. The purpose of this study was to identify PTEN modifier genes by quantitative trait loci (QTL) mapping. To do so, we crossed transgenic mice that overexpress PTEN (super-PTEN) to lines of the Collaborative Cross (CC), a mouse population modeling human genetic diversity. We evaluated body weight at weaning as a surrogate for PTEN activity because it has been previously reported that super-PTEN expression is associated with reduced weight at weaning. Difference in body weight at weaning of super-PTEN pups compared to wild-type littermates was used for QTL analysis to identify modifier genes of PTEN. This approach has identified candidate genomic intervals harboring PTEN modifier genes. Further studies will identify candidate genes and confirm these genes as modifiers. A pilot study has been initiated to verify that the effect of PTEN on body weight is indicative of the effect of PTEN on cancer susceptibility.
Thomas, Rachel E. (2018). Identification of PTEN Modifier Genes Using the Collaborative Cross Mouse Panel. Undergraduate Research Scholars Program. Available electronically from