Award
National Institute of Arthritis and Musculoskeletal and Skin Diseases 1K99AR081926-01A1
Consequence of human satellite repeat expression and immunostimulatory potential in FSHD
Recipient
FRED HUTCHINSON CANCER CENTER, SEATTLE, WA, UNITED STATES
Award Amount
$124,308.00
Ceiling
$124,308.00
Awarded
September 09, 2025
Identifier
1K99AR081926-01A1
Research project funded to study the role of HSATII repeats in DUX4-induced toxicity in skeletal muscle related to facioscapulohumeral muscular dystrophy, aiming to understand disease mechanisms and genome biology.
Description
The proposed research addresses a relatively unexplored, yet major mechanism driving DUX4-induced cellular toxicity in skeletal muscle, the expression of pericentric human satellite repeat II (HSATII) repeats. The health relevance of the proposed research is that HSATII expression and subsequent ribonucleoprotein formation contribute to DUX4-driven biology of facioscapulohumeral muscular dystrophy. Moreover, this work provides the basis for future studies of HSATII genome biology and function in disease and in human development.