Heritable Individual-Specific and Allele-Specific Chromatin Signatures in Humans

See allHide authors and affiliations

Science  18 Mar 2010:
DOI: 10.1126/science.1184655


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 have 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, and a similar proportion were allele-specific. Both individual-specific and allele-specific sites were commonly transmitted from parent to child, suggesting that they are heritable features of the human genome. Our study shows that heritable chromatin status and transcription factor binding differs on the basis of genetic variation and may underlie phenotypic variation in humans.