Heritable individual-specific and allele-specific chromatin signatures in humans

Science. 2010 Apr 9;328(5975):235-9. doi: 10.1126/science.1184655. Epub 2010 Mar 18.


The extent to which variation in chromatin structure and transcription factor binding may influence gene expression, and thus underlie or contribute to variation in phenotype, is unknown. To address this question, we cataloged both individual-to-individual variation and differences between homologous chromosomes within the same individual (allele-specific variation) in chromatin structure and transcription factor binding in lymphoblastoid cells derived from individuals of geographically diverse ancestry. Ten percent of active chromatin sites were individual-specific; a similar proportion were allele-specific. Both individual-specific and allele-specific sites were commonly transmitted from parent to child, which suggests that they are heritable features of the human genome. Our study shows that heritable chromatin status and transcription factor binding differ as a result of genetic variation and may underlie phenotypic variation in humans.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Alleles*
  • Binding Sites
  • Black People
  • CCCTC-Binding Factor
  • Cell Line
  • Chromatin / chemistry
  • Chromatin / genetics*
  • Chromatin / metabolism*
  • Chromatin Immunoprecipitation
  • Chromosomes, Human / genetics
  • Chromosomes, Human / metabolism
  • Chromosomes, Human, X / genetics
  • Chromosomes, Human, X / metabolism
  • Deoxyribonuclease I / metabolism
  • Female
  • Gene Expression Regulation*
  • Genetic Variation*
  • Humans
  • Male
  • Nuclear Family
  • Polymorphism, Single Nucleotide
  • Protein Binding
  • Regulatory Elements, Transcriptional
  • Repressor Proteins / metabolism*
  • Sequence Analysis, DNA
  • Transcription Factors / metabolism*
  • White People
  • X Chromosome Inactivation


  • CCCTC-Binding Factor
  • CTCF protein, human
  • Chromatin
  • Repressor Proteins
  • Transcription Factors
  • Deoxyribonuclease I

Associated data

  • GEO/GSE15805
  • GEO/GSE19622