Mouse Model to Validate Drugs Targeting DUX4 Enhancer/Promoter Activity

Budget

• 2 Year Project; 2nd Year Cost $45,062 USD
• FSHD Canada Foundation Contribution to Year 2: US$22,531 USD (jointly with Friends of FSH)

Lay Abstract

Investigator: Yosuke Hiramuki, Ph.D. at the University of Nevada, Reno

We created a mouse model to validate the effect of drugs targeting DUX4 gene expression in a whole living organism. However, the mouse genome does not have the DUX4 gene or gene regulatory sequence, therefore, we engineered mice that contain these sequences. In this study, we seek to characterize our novel mouse model, which contains the human FSHD region. In our previous progress report, we mainly focused on DUX4 expression patterns in development and adult tissues. To further understand and characterize DUX4 regulation and expression in these
mice, we are now identifying the cell types that express human DUX4 at single cell level. Moreover, using this model mouse, we are investigating what happens in mice expressing human DUX4 from development to adult.