Progress Update: In vivo model to validate drugs targeting DUX4 enhancer/promoter activity

Posted by Friends of FSH Research on Mar 10, 2020

Progress update by Yosuke Hiramuki

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.

See grant In vivo model to validate drugs targeting DUX4 enhancer/promoter activity