Examining the impact of gene variants on histone lysine methylation

Biochim Biophys Acta. 2014 Dec;1839(12):1463-76. doi: 10.1016/j.bbagrm.2014.05.014. Epub 2014 May 23.

Abstract

In recent years, there has been a boom in the amount of genome-wide sequencing data that has uncovered important and unappreciated links between certain genes, families of genes and enzymatic processes and diseases such as cancer. Such studies have highlighted the impact that chromatin modifying enzymes could have in cancer and other genetic diseases. In this review, we summarize characterized mutations and single nucleotide polymorphisms (SNPs) in histone lysine methyltransferases (KMTs), histone lysine demethylases (KDMs) and histones. We primarily focus on variants with strong disease correlations and discuss how they could impact histone lysine methylation dynamics and gene regulation.

Keywords: EZH2; Histone; KDM; KMT; SNP; Somatic mutation.

Publication types

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

MeSH terms

  • Animals
  • Histone Demethylases / genetics*
  • Histone Demethylases / metabolism
  • Histone-Lysine N-Methyltransferase / genetics*
  • Histone-Lysine N-Methyltransferase / metabolism
  • Histones / genetics*
  • Histones / metabolism
  • Humans
  • Lysine / metabolism*
  • Methylation
  • Mutation*
  • Neoplasms / genetics
  • Neoplasms / metabolism
  • Polymorphism, Single Nucleotide*

Substances

  • Histones
  • Histone Demethylases
  • Histone-Lysine N-Methyltransferase
  • Lysine