Pope Benjamin D, Ryba Tyrone, Dileep Vishnu, Yue Feng, Wu Weisheng, Denas Olgert, Vera Daniel L, Wang Yanli, Hansen R Scott, Canfield Theresa K, Thurman Robert E, Cheng Yong, Gülsoy Günhan, Dennis Jonathan H, Snyder Michael P, Stamatoyannopoulos John A, Taylor James, Hardison Ross C, Kahveci Tamer, Ren Bing, Gilbert David M
Department of Biological Science, 319 Stadium Drive, Florida State University, Tallahassee, Florida 32306, USA.
Division of Natural Sciences, 5800 Bay Shore Road, New College of Florida, Sarasota, Florida 34243, USA.
Nature. 2014 Nov 20;515(7527):402-5. doi: 10.1038/nature13986.
Eukaryotic chromosomes replicate in a temporal order known as the replication-timing program. In mammals, replication timing is cell-type-specific with at least half the genome switching replication timing during development, primarily in units of 400-800 kilobases ('replication domains'), whose positions are preserved in different cell types, conserved between species, and appear to confine long-range effects of chromosome rearrangements. Early and late replication correlate, respectively, with open and closed three-dimensional chromatin compartments identified by high-resolution chromosome conformation capture (Hi-C), and, to a lesser extent, late replication correlates with lamina-associated domains (LADs). Recent Hi-C mapping has unveiled substructure within chromatin compartments called topologically associating domains (TADs) that are largely conserved in their positions between cell types and are similar in size to replication domains. However, TADs can be further sub-stratified into smaller domains, challenging the significance of structures at any particular scale. Moreover, attempts to reconcile TADs and LADs to replication-timing data have not revealed a common, underlying domain structure. Here we localize boundaries of replication domains to the early-replicating border of replication-timing transitions and map their positions in 18 human and 13 mouse cell types. We demonstrate that, collectively, replication domain boundaries share a near one-to-one correlation with TAD boundaries, whereas within a cell type, adjacent TADs that replicate at similar times obscure replication domain boundaries, largely accounting for the previously reported lack of alignment. Moreover, cell-type-specific replication timing of TADs partitions the genome into two large-scale sub-nuclear compartments revealing that replication-timing transitions are indistinguishable from late-replicating regions in chromatin composition and lamina association and accounting for the reduced correlation of replication timing to LADs and heterochromatin. Our results reconcile cell-type-specific sub-nuclear compartmentalization and replication timing with developmentally stable structural domains and offer a unified model for large-scale chromosome structure and function.
真核生物染色体按一种称为复制时间程序的时间顺序进行复制。在哺乳动物中,复制时间具有细胞类型特异性,在发育过程中至少有一半的基因组会切换复制时间,主要是以400 - 800千碱基的单位(“复制结构域”)进行,其位置在不同细胞类型中得以保留,在物种间保守,并且似乎限制了染色体重排的长程效应。早期和晚期复制分别与通过高分辨率染色体构象捕获(Hi-C)确定的开放和封闭三维染色质区室相关,并且在较小程度上,晚期复制与核纤层相关结构域(LADs)相关。最近的Hi-C图谱揭示了染色质区室内的亚结构,称为拓扑相关结构域(TADs),其位置在细胞类型之间基本保守,大小与复制结构域相似。然而,TADs可以进一步细分为更小的结构域,这对任何特定尺度结构的重要性提出了挑战。此外,尝试将TADs和LADs与复制时间数据进行协调尚未揭示出共同的潜在结构域结构。在这里,我们将复制结构域的边界定位到复制时间转换的早期复制边界,并绘制它们在18种人类和13种小鼠细胞类型中的位置。我们证明,总体而言,复制结构域边界与TAD边界几乎一一对应,而在一种细胞类型内,相似时间复制的相邻TADs会模糊复制结构域边界,这在很大程度上解释了先前报道的缺乏对齐现象。此外,TADs的细胞类型特异性复制时间将基因组划分为两个大规模亚核区室,这表明复制时间转换在染色质组成和核纤层关联方面与晚期复制区域无法区分,并且解释了复制时间与LADs和异染色质之间相关性降低的原因。我们的结果将细胞类型特异性亚核区室化和复制时间与发育稳定的结构域进行了协调,并为大规模染色体结构和功能提供了一个统一模型。