SIX transcription factors are necessary for the activation of DUX4 expression in facioscapulohumeral muscular dystrophy.

ABSTRACT:

Background

Facioscapulohumeral muscular dystrophy (FSHD) is a common and progressive muscle wasting disease that is characterized by muscle weakness often first noticed in the face, the shoulder girdle and upper arms before progressing to the lower limb muscles. FSHD is caused by the misexpression of the Double Homeobox 4 (DUX4) transcription factor in skeletal muscle. While epigenetic derepression of D4Z4 macrosatellite repeats underlies DUX4 misexpression, our understanding of the complex transcriptional activation of DUX4 is incomplete.

Methods

To identify potential DUX4-regulatory factors, we used small interfering RNAs (siRNAs) to knockdown SIX family transcription factors (SIX1, 2, 4, 5) in patient-derived FSHD1 and FSHD2 myoblasts that were differentiated to form mult

SUBMITTER: Fox A 

PROVIDER: S-EPMC11613756 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature