Dr. Tapscott aims to use this grant to identify the potential mechanisms that cause FSHD, identifying the molecular changes that result from the FSHD mutation.

Dr. Kyba will insert D4Z4 repeats into the mouse genome in ES at a site on the X-chromosome, known to enable tissue-specific expression of transgenes, and to tolerate dominant lethal genes. He will study whether the presence of these repeats affects differentiation of the ES cells, and will produce mice bearing D4Z4 repeats, as a potential animal model for FSHD.