Mouse Genomics Centers Consortium (CMGCC)

Human Polymorphisms in DNA Damage & Cell Cycle Genes

Are there Functional Consequences?

Illustrated is a view of cell cycle control protein “RB1”. We know of 6 human polymorphisms in this particular protein that cause amino-acid changes. However, at the current stage of our understanding, we are entirely unsure of the functional consequences of these and other polymorphisms of key human genes. Our hypothesis is that if these polymorphisms alter the ability of these gene products to function within the pathways or processes of DNA Damage Repair and Cell-Cycle Control, the consequences might alter cancer susceptibility of the affected individual, particularly in challenging environments where exposure to a high level of DNA damaging agent may occur. Thus, our consortium seeks to model a series of prevalent polymorphisms by placing normal and altered version of these genes into the mouse and experimentally assaying the function of the pathways and the susceptibility of the mice to DNA damaging agents.

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