Allele-specific and heritable chromatin signatures in humans.

Journal Article (Journal Article;Review)

Next-generation sequencing-based assays to detect gene regulatory elements are enabling the analysis of individual-to-individual and allele-specific variation of chromatin status and transcription factor binding in humans. Recently, a number of studies have explored this area, using lymphoblastoid cell lines. Around 10% of chromatin sites show either individual-level differences or allele-specific behavior. Future studies are likely to be limited by cell line accessibility, meaning that white-bloodcell-based studies are likely to continue to be the main source of samples. A detailed understanding of the relationship between normal genetic variation and chromatin variation can shed light on how polymorphisms in non-coding regions in the human genome might underlie phenotypic variation and disease.

Full Text

Duke Authors

Cited Authors

  • Birney, E; Lieb, JD; Furey, TS; Crawford, GE; Iyer, VR

Published Date

  • October 15, 2010

Published In

Volume / Issue

  • 19 / R2

Start / End Page

  • R204 - R209

PubMed ID

  • 20846943

Pubmed Central ID

  • PMC2953746

Electronic International Standard Serial Number (EISSN)

  • 1460-2083

Digital Object Identifier (DOI)

  • 10.1093/hmg/ddq404


  • eng

Conference Location

  • England