SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.

ABSTRACT: The DNA methylation epigenetic signature is a key determinant during development. Rules governing its establishment and maintenance remain elusive especially at repetitive sequences, which account for the majority of methylated CGs. DNA methylation is altered in a number of diseases including those linked to mutations in factors that modify chromatin. Among them, SMCHD1 (Structural Maintenance of Chromosomes Hinge Domain Containing 1) has been of major interest following identification of germline mutations in Facio-Scapulo-Humeral Dystrophy (FSHD) and in an unrelated developmental disorder, Bosma Arhinia Microphthalmia Syndrome (BAMS). By investigating why germline SMCHD1 mutations lead to these two different diseases, we uncovered a role for this factor in de novo methylation at the plur

SUBMITTER: Dion C 

PROVIDER: S-EPMC6451109 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature