Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive
ORGANISM(S): Homo Sapiens (human)
SUBMITTER: Román González-Prieto
LAB HEAD: Alfred C.O. Vertegaal
PROVIDER: PXD023993 | Pride | 2021-12-15
REPOSITORIES: Pride
Goossens Remko R Tihaya Mara S MS van den Heuvel Anita A Tabot-Ndip Klorane K Willemsen Iris M IM Tapscott Stephen J SJ González-Prieto Román R Chang Jer-Gung JG Vertegaal Alfred C O ACO Balog Judit J van der Maarel Silvère M SM
Scientific reports 20211208 1
Structural Maintenance of Chromosomes Hinge Domain Containing 1 (SMCHD1) is a chromatin repressor, which is mutated in > 95% of Facioscapulohumeral dystrophy (FSHD) type 2 cases. In FSHD2, SMCHD1 mutations ultimately result in the presence of the cleavage stage transcription factor DUX4 in muscle cells due to a failure in epigenetic repression of the D4Z4 macrosatellite repeat on chromosome 4q, which contains the DUX4 locus. While binding of SMCHD1 to D4Z4 and its necessity to maintain a repress ...[more]