Update: Consequence of Human Satellite II repeat expression in FSHD

Report by Tessa Arends
See also Consequence of human satellite II repeat expression in FSHD

My research examines an important mechanism behind DUX4-induced toxicity in skeletal muscle: the activation of pericentromeric human satellite II (HSATII) repeats. My current work shows that HSATII noncoding RNA can sequester not only RNA binding proteins, but chromatin regulators as well, and this depends on the RNA’s structure. Sequestration of these proteins by HSATII noncoding RNA disrupts transcriptional and post-transcriptional gene regulation. My current focus is identifying signaling pathways downstream of DUX4 that control HSATII expression and developing strategies to reduce HSATII transcription and RNA accumulation in FSHD muscle cells.