A New Role for SMCHD1 in Life’s Master Switch and Beyond

Publication date: Available online 25 October 2019Source: Trends in GeneticsAuthor(s): Peter Z. Schall, Meghan L. Ruebel, Keith E. LathamStructural maintenance of chromosomes flexible hinge-domain containing protein 1 (SMCHD1) has emerged as a key regulator of embryonic genome function. Its functions have now extended well beyond the initial findings of effects on X chromosome inactivation associated with lethality in female embryos homozygous for a null allele. Autosomal dominant effects impact stem cell properties as well as postnatal health. Recent studies have revealed that SMCHD1 plays an important role as a maternal effect gene that regulates the master switch of life, namely embryonic genome activation, as well as subsequent preimplantation development and term viability. These discoveries mark SMCHD1 as a major regulator linking developmental processes to adult disorders including a form of muscular dystrophy.
Source: Trends in Genetics - Category: Genetics & Stem Cells Source Type: research