Proposed scheme for FSHD pathogenesis in myoblasts. This cartoon shows some of the main regulatory changes at the myoblast stage that may be determining the FSHD-specific gene expression profile in myoblasts and myotubes. DUX4-fl RNA is found at extremely low levels in FSHD and control myoblasts and myotubes but not in the corresponding control cells. The double-headed arrows indicate that these regulatory changes can reinforce each other. TF, transcription factors. RNAi, RNA interference; *, the activation of DUX4-fl expression in FSHD at the satellite cell stage is proposed to occur at or before activation of FSHD satellite cells and is not yet tested.
Tsumagari et al. BMC Medical Genomics 2011 4:67 doi:10.1186/1755-8794-4-67