hide
Free keywords:
-
Abstract:
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.
