近日，瑞典皇家理工学院教授Joakim Lundeberg及其小组的最新研究提出了人类心脏发育的时空基因表达和细胞动力学。这一研究成果发表在2025年10月29日出版的国际学术期刊《自然—遗传学》上。

该课题组将无偏空间和单细胞转录组学与基于成像的验证结合起来，从怀孕后5.5周到14周，揭示人类早期心脏发生的分子景观。课题组人员展示了人类心脏发育的高分辨率转录组图，揭示了31种粗粒度和72种细粒度细胞状态的空间排列，这些细胞状态被组织成不同的功能龛。他们的发现阐明了心脏起搏器传导系统、心脏瓣膜和房间隔形成的关键见解，并揭示了心脏间充质细胞意想不到的多样性。该团队还追踪自主神经支配的出现，并提供胎儿心脏中染色质细胞的第一个空间账户。他们的研究得到了一个开放访问的以空间为中心的交互式观看器的支持，为探索人类心脏发育的细胞和分子蓝图提供了一个独特的途径，为心脏病的遗传主题提供了联系。

据悉，心脏发育依赖于拓扑结构上精心安排的细胞转变和相互作用，其中许多在人类中仍然缺乏特征。

附：英文原文

Title: Spatiotemporal gene expression and cellular dynamics of the developing human heart

Author: Lzr, Enik, Mauron, Raphal, Andrusivov, aneta, Foyer, Julia, He, Mengxiao, Larsson, Ludvig, Shakari, Nick, Salas, Sergio Marco, Avenel, Christophe, Sariyar, Sanem, Hansen, Jan Niklas, Vicari, Marco, Czarnewski, Paulo, Braun, Emelie, Li, Xiaofei, Bergmann, Olaf, Sylvn, Christer, Lundberg, Emma, Linnarsson, Sten, Nilsson, Mats, Sundstrm, Erik, Adameyko, Igor, Lundeberg, Joakim

Issue&Volume: 2025-10-29

Abstract: Heart development relies on topologically orchestrated cellular transitions and interactions, many of which remain poorly characterized in humans. Here, we combined unbiased spatial and single-cell transcriptomics with imaging-based validation across postconceptional weeks 5.5 to 14 to uncover the molecular landscape of human early cardiogenesis. We present a high-resolution transcriptomic map of the developing human heart, revealing the spatial arrangements of 31 coarse-grained and 72 fine-grained cell states organized into distinct functional niches. Our findings illuminate key insights into the formation of the cardiac pacemaker-conduction system, heart valves and atrial septum, and uncover unexpected diversity among cardiac mesenchymal cells. We also trace the emergence of autonomic innervation and provide the first spatial account of chromaffin cells in the fetal heart. Our study, supported by an open-access spatially centric interactive viewer, offers a unique resource to explore the cellular and molecular blueprint of human heart development, offering links to genetic causes of heart disease.

DOI: 10.1038/s41588-025-02352-6

Source: https://www.nature.com/articles/s41588-025-02352-6