Almassalha Luay M, Carignano Marcelo, Liwag Emily Pujadas, Li Wing Shun, Gong Ruyi, Acosta Nicolas, Dunton Cody L, Gonzalez Paola Carrillo, Carter Lucas M, Kakkaramadam Rivaan, Kröger Martin, MacQuarrie Kyle L, Frederick Jane, Ye I Chae, Su Patrick, Kuo Tiffany, Medina Karla I, Pritchard Josh A, Skol Andrew, Nap Rikkert, Kanemaki Masato, Dravid Vinayak, Szleifer Igal, Backman Vadim
Department of Gastroenterology and Hepatology, Northwestern Memorial Hospital, Chicago, IL 60611, USA.
Center for Physical Genomics and Engineering, Northwestern University, Evanston, IL 60208, USA.
Sci Adv. 2025 Jan 10;11(2):eadq6652. doi: 10.1126/sciadv.adq6652.
In single cells, variably sized nanoscale chromatin structures are observed, but it is unknown whether these form a cohesive framework that regulates RNA transcription. Here, we demonstrate that the human genome is an emergent, self-assembling, reinforcement learning system. Conformationally defined heterogeneous, nanoscopic packing domains form by the interplay of transcription, nucleosome remodeling, and loop extrusion. We show that packing domains are not topologically associated domains. Instead, packing domains exist across a structure-function life cycle that couples heterochromatin and transcription in situ, explaining how heterochromatin enzyme inhibition can produce a paradoxical decrease in transcription by destabilizing domain cores. Applied to development and aging, we show the pairing of heterochromatin and transcription at myogenic genes that could be disrupted by nuclear swelling. In sum, packing domains represent a foundation to explore the interactions of chromatin and transcription at the single-cell level in human health.
在单细胞中,可观察到大小各异的纳米级染色质结构,但尚不清楚这些结构是否形成了一个调节RNA转录的连贯框架。在这里,我们证明人类基因组是一个涌现的、自组装的强化学习系统。由转录、核小体重塑和环挤压的相互作用形成了构象定义的异质纳米级包装结构域。我们表明,包装结构域不是拓扑相关结构域。相反,包装结构域存在于一个结构-功能生命周期中,该周期在原位将异染色质与转录耦合在一起,解释了异染色质酶抑制如何通过破坏结构域核心的稳定性而导致转录出现反常下降。应用于发育和衰老研究,我们发现肌源性基因处的异染色质与转录配对可能会因核肿胀而被破坏。总之,包装结构域是在人类健康的单细胞水平上探索染色质与转录相互作用的基础。