MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy

ABSTRACT: We identified MATR3 as the first direct endogenous inhibitor of DUX4. We found that MATR3 directly binds to DUX4 DNA-binding domain and blocks DUX4-mediated gene expression. As a result, MATR3 administration rescues cell viability and myogenic differentiation of FSHD muscle cells, while it does not affect healthy muscle cells. Notably, we characterized a short MATR3 fragment that is necessary and sufficient to directly block DUX4-induced toxicity to the same extent of the full-length protein.

ORGANISM(S): Homo sapiens

PROVIDER: GSE210008 | GEO | 2023/08/21

REPOSITORIES: GEO