Heritable individual-specific and allele-specific chromatin signatures in humans.
Heritable individual-specific and allele-specific chromatin signatures in humans.
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DOI：
10.1126/science.1184655
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发表时间：
2010-04-09
期刊：
影响因子：
--
通讯作者：
Birney E
中科院分区：
文献类型：
--
作者：
McDaniell R;Lee BK;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
染色质结构和转录因子结合的变异在多大程度上可能影响基因表达，从而构成或促成表型变异，这是未知的。为了解决这个问题，我们对来自不同地理血统个体的淋巴母细胞中染色质结构和转录因子结合的个体间变异以及同一个体同源染色体间的差异（等位基因特异性变异）进行了分类。10%的活性染色质位点是个体特异性的；相似比例是等位基因特异性的。个体特异性位点和等位基因特异性位点通常都是从父母遗传给子女的，这表明它们是人类基因组的可遗传特征。我们的研究表明，可遗传的染色质状态和转录因子结合因遗传变异而不同，并且可能是人类表型变异的基础。
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.
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