Department of Medicine, Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA.
Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):139-44. doi: 10.1073/pnas.0912402107. Epub 2009 Dec 4.
Faithful transmission of genetic material to daughter cells involves a characteristic temporal order of DNA replication, which may play a significant role in the inheritance of epigenetic states. We developed a genome-scale approach--Repli Seq--to map temporally ordered replicating DNA using massively parallel sequencing and applied it to study regional variation in human DNA replication time across multiple human cell types. The method requires as few as 8,000 cytometry-fractionated cells for a single analysis, and provides high-resolution DNA replication patterns with respect to both cell-cycle time and genomic position. We find that different cell types exhibit characteristic replication signatures that reveal striking plasticity in regional replication time patterns covering at least 50% of the human genome. We also identified autosomal regions with marked biphasic replication timing that include known regions of monoallelic expression as well as many previously uncharacterized domains. Comparison with high-resolution genome-wide profiles of DNaseI sensitivity revealed that DNA replication typically initiates within foci of accessible chromatin comprising clustered DNaseI hypersensitive sites, and that replication time is better correlated with chromatin accessibility than with gene expression. The data collectively provide a unique, genome-wide picture of the epigenetic compartmentalization of the human genome and suggest that cell-lineage specification involves extensive reprogramming of replication timing patterns.
遗传物质向子细胞的忠实传递涉及 DNA 复制的特征时间顺序,这可能在表观遗传状态的遗传中发挥重要作用。我们开发了一种基于基因组规模的方法——RepliSeq,使用大规模平行测序来绘制按时间顺序复制的 DNA 图谱,并将其应用于研究多个人类细胞类型中人类 DNA 复制时间的区域变化。该方法在单个分析中只需要 8000 个细胞即可进行分析,并且提供了关于细胞周期时间和基因组位置的高分辨率 DNA 复制模式。我们发现,不同的细胞类型表现出特征性的复制特征,揭示了覆盖至少 50%人类基因组的区域复制时间模式的惊人可塑性。我们还鉴定了具有明显双相复制时间的常染色体区域,其中包括已知的单等位基因表达区域以及许多以前未表征的区域。与高分辨率全基因组 DNaseI 敏感性图谱的比较表明,DNA 复制通常在包含聚集性 DNaseI 超敏位点的可及染色质焦点内起始,并且复制时间与染色质可及性的相关性优于与基因表达的相关性。这些数据共同提供了人类基因组表观基因组分区的独特的全基因组图谱,并表明细胞谱系特化涉及复制时间模式的广泛重编程。