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

Trends Genet. 2019 Dec;35(12):948-955. doi: 10.1016/j.tig.2019.10.001. Epub 2019 Oct 25.

Abstract

Structural 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.

Keywords: chromatin; embryo; genome programming; preimplantation; transcription.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cellular Reprogramming / genetics
  • Chromosomal Proteins, Non-Histone / chemistry
  • Chromosomal Proteins, Non-Histone / genetics*
  • Chromosomal Proteins, Non-Histone / metabolism*
  • Disease Susceptibility
  • Embryonic Development / genetics*
  • Gene Expression Regulation
  • Genetic Predisposition to Disease
  • Genome
  • Genomics / methods
  • Humans

Substances

  • Chromosomal Proteins, Non-Histone
  • SMCHD1 protein, human