Identification of genetic variants that affect histone modifications in human cells

Science. 2013 Nov 8;342(6159):747-9. doi: 10.1126/science.1242429. Epub 2013 Oct 17.

Abstract

Histone modifications are important markers of function and chromatin state, yet the DNA sequence elements that direct them to specific genomic locations are poorly understood. Here, we identify hundreds of quantitative trait loci, genome-wide, that affect histone modification or RNA polymerase II (Pol II) occupancy in Yoruba lymphoblastoid cell lines (LCLs). In many cases, the same variant is associated with quantitative changes in multiple histone marks and Pol II, as well as in deoxyribonuclease I sensitivity and nucleosome positioning. Transcription factor binding site polymorphisms are correlated overall with differences in local histone modification, and we identify specific transcription factors whose binding leads to histone modification in LCLs. Furthermore, variants that affect chromatin at distal regulatory sites frequently also direct changes in chromatin and gene expression at associated promoters.

Publication types

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

MeSH terms

  • Binding Sites / genetics
  • Cell Line, Tumor
  • Cells / metabolism
  • Chromatin / chemistry
  • Chromatin / genetics
  • Chromatin / metabolism
  • Gene Expression Regulation*
  • Genetic Variation*
  • Genome, Human
  • Histones / chemistry
  • Histones / genetics
  • Histones / metabolism*
  • Humans
  • Polymorphism, Genetic
  • Promoter Regions, Genetic
  • Protein Processing, Post-Translational / genetics*
  • Quantitative Trait Loci
  • RNA Polymerase II / chemistry
  • RNA Polymerase II / metabolism*
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*

Substances

  • Chromatin
  • Histones
  • Transcription Factors
  • RNA Polymerase II

Associated data

  • GEO/GSE19480
  • GEO/GSE31388
  • GEO/GSE36979
  • GEO/GSE47991