SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation

Nat Genet. 2008 May;40(5):663-9. doi: 10.1038/ng.142. Epub 2008 Apr 20.

Abstract

X-chromosome inactivation is the mammalian dosage compensation mechanism by which transcription of X-linked genes is equalized between females and males. In an N-ethyl-N-nitrosourea (ENU) mutagenesis screen on mice for modifiers of epigenetic reprogramming, we identified the MommeD1 (modifier of murine metastable epialleles) mutation as a semidominant suppressor of variegation. MommeD1 shows homozygous female-specific mid-gestation lethality and hypomethylation of the X-linked gene Hprt1, suggestive of a defect in X inactivation. Here we report that the causative point mutation lies in a previously uncharacterized gene, Smchd1 (structural maintenance of chromosomes hinge domain containing 1). We find that SmcHD1 is not required for correct Xist expression, but localizes to the inactive X and has a role in the maintenance of X inactivation and the hypermethylation of CpG islands associated with the inactive X. This finding links a group of proteins normally associated with structural aspects of chromosome biology with epigenetic gene silencing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosomal Proteins, Non-Histone / analysis
  • Chromosomal Proteins, Non-Histone / genetics
  • Chromosomal Proteins, Non-Histone / metabolism*
  • CpG Islands
  • DNA Methylation
  • Fibroblasts / ultrastructure
  • Gene Silencing*
  • Mice
  • Point Mutation
  • RNA, Long Noncoding
  • RNA, Untranslated / metabolism
  • X Chromosome / chemistry
  • X Chromosome / genetics
  • X Chromosome / metabolism*
  • X Chromosome Inactivation*

Substances

  • Chromosomal Proteins, Non-Histone
  • RNA, Long Noncoding
  • RNA, Untranslated
  • SmcHD1 protein, mouse
  • XIST non-coding RNA