Center for Systems and Synthetic Biology, Institute for Cellular and Molecular Biology, Section of Molecular Genetics and Microbiology, University of Texas, Austin, TX 78712, USA.
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.
染色质结构和转录因子结合的变化在多大程度上可能影响基因表达，并因此成为表型变异的基础或促成因素，目前尚不清楚。为了解决这个问题，我们对来自地理分布不同的个体的淋巴母细胞系中的染色质结构和转录因子结合进行了个体间变异和同一个体内同源染色体之间的差异（等位基因特异性变异）的编目。10%的活性染色质位点是个体特异性的；类似的比例是等位基因特异性的。个体特异性和等位基因特异性的位点通常从父母传递给子女，这表明它们是人类基因组的可遗传特征。我们的研究表明，由于遗传变异，可遗传的染色质状态和转录因子结合会发生差异，并可能成为人类表型变异的基础。
