A disproportionate impact of G9a methyltransferase deficiency on the X chromosome

Genes Dev. 2021 Jul 1;35(13-14):1035-1054. doi: 10.1101/gad.337592.120. Epub 2021 Jun 24.

Abstract

G9a is a histone methyltransferase responsible for the dimethylation of histone H3 at lysine 9 (H3K9me2). G9a plays key roles in transcriptional silencing of developmentally regulated genes, but its role in X-chromosome inactivation (XCI) has been under debate. Here, we uncover a female-specific function of G9a and demonstrate that deleting G9a has a disproportionate impact on the X chromosome relative to the rest of the genome. G9a deficiency causes a failure of XCI and female-specific hypersensitivity to drug inhibition of H3K9me2. We show that G9a interacts with Tsix and Xist RNAs, and that competitive inhibition of the G9a-RNA interaction recapitulates the XCI defect. During XCI, Xist recruits G9a to silence X-linked genes on the future inactive X. In parallel on the future Xa, Tsix recruits G9a to silence Xist in cis Thus, RNA tethers G9a for allele-specific targeting of the H3K9me2 modification and the G9a-RNA interaction is essential for XCI.

Keywords: G9a; H3K9me2; Tsix; X chromosome inactivation; Xist; epigenetics; noncoding RNA.

Publication types

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

MeSH terms

  • Chromosomes, Human, X*
  • Female
  • Histocompatibility Antigens / metabolism*
  • Histone-Lysine N-Methyltransferase / metabolism*
  • Histones / metabolism
  • Humans
  • Methyltransferases* / genetics
  • RNA, Long Noncoding* / genetics
  • X Chromosome Inactivation / genetics

Substances

  • Histocompatibility Antigens
  • Histones
  • RNA, Long Noncoding
  • Methyltransferases
  • EHMT2 protein, human
  • Histone-Lysine N-Methyltransferase