这项研究通过整合单细胞RNA测序（scRNA-seq）和CRISPR激活（CRISPRa）等功能基因组学方法，确定了三体性21（唐氏综合征）相关先天性心脏缺陷（CHDs）的潜在致病基因。研究发现，编码在21号染色体上的表观遗传调节因子HMGN1的过量表达是导致房室管（AVC）心肌细胞向心室心肌细胞状态转化的关键因素。通过在唐氏综合征小鼠模型中将Hmgn1的剂量减少到两个等位基因，研究人员成功挽救了转录异常和心脏间隔缺损的发生率，证实了HMGN1是调节唐氏综合征心脏发育的剂量敏感基因。这项工作为系统地筛选复杂遗传综合征中非整倍体相关的致病基因提供了一个新范例。References: Ranade S S, Li F, Whalen S, et al. Myocardial reprogramming by HMGN1 underlies heart defects in trisomy 21[J]. Nature, 2025: 1-9.
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