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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • McDaniell, R; Lee, B-K; Song, L; Liu, Z; Boyle, AP; Erdos, MR; Scott, LJ; Morken, MA; Kucera, KS; Battenhouse, A; Keefe, D; Collins, FS; Willard, HF; Lieb, JD; Furey, TS; Crawford, GE; Iyer, VR; Birney, E

Published Date

  • April 9, 2010

Published In

Volume / Issue

  • 328 / 5975

Start / End Page

  • 235 - 239

PubMed ID

  • 20299549

Pubmed Central ID

  • PMC2929018

Electronic International Standard Serial Number (EISSN)

  • 1095-9203

Digital Object Identifier (DOI)

  • 10.1126/science.1184655


  • eng

Conference Location

  • United States