Rao Suhas S P, Huntley Miriam H, Durand Neva C, Stamenova Elena K, Bochkov Ivan D, Robinson James T, Sanborn Adrian L, Machol Ido, Omer Arina D, Lander Eric S, Aiden Erez Lieberman
The Center for Genome Architecture, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Computer Science, Department of Computational and Applied Mathematics, Rice University, Houston, TX 77005, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02139, USA.
The Center for Genome Architecture, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Computer Science, Department of Computational and Applied Mathematics, Rice University, Houston, TX 77005, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02139, USA; School of Engineering and Applied Sciences, Harvard University, Cambridge, MA 02138, USA.
Cell. 2014 Dec 18;159(7):1665-80. doi: 10.1016/j.cell.2014.11.021. Epub 2014 Dec 11.
We use in situ Hi-C to probe the 3D architecture of genomes, constructing haploid and diploid maps of nine cell types. The densest, in human lymphoblastoid cells, contains 4.9 billion contacts, achieving 1 kb resolution. We find that genomes are partitioned into contact domains (median length, 185 kb), which are associated with distinct patterns of histone marks and segregate into six subcompartments. We identify ∼10,000 loops. These loops frequently link promoters and enhancers, correlate with gene activation, and show conservation across cell types and species. Loop anchors typically occur at domain boundaries and bind CTCF. CTCF sites at loop anchors occur predominantly (>90%) in a convergent orientation, with the asymmetric motifs "facing" one another. The inactive X chromosome splits into two massive domains and contains large loops anchored at CTCF-binding repeats.
我们使用原位Hi-C技术来探测基因组的三维结构,构建了九种细胞类型的单倍体和二倍体图谱。在人类淋巴母细胞中最密集的图谱包含49亿个接触点,实现了1千碱基的分辨率。我们发现基因组被划分为接触结构域(中位数长度为185千碱基),这些结构域与组蛋白标记的不同模式相关,并分离为六个亚区室。我们识别出约10000个环。这些环经常连接启动子和增强子,与基因激活相关,并在不同细胞类型和物种间表现出保守性。环的锚点通常出现在结构域边界并结合CTCF。环锚点处的CTCF位点主要(>90%)以汇聚方向出现,其不对称基序彼此“相对”。失活的X染色体分裂成两个巨大的结构域,并包含锚定在CTCF结合重复序列上的大环。