Institute for Neurodegenerative Diseases, University of California, San Francisco, San Francisco, CA, USA.
Gladstone Institute of Neurological Disease, San Francisco, CA, USA.
Nat Neurosci. 2022 Sep;25(9):1149-1162. doi: 10.1038/s41593-022-01131-4. Epub 2022 Aug 11.
Microglia are emerging as key drivers of neurological diseases. However, we lack a systematic understanding of the underlying mechanisms. Here, we present a screening platform to systematically elucidate functional consequences of genetic perturbations in human induced pluripotent stem cell-derived microglia. We developed an efficient 8-day protocol for the generation of microglia-like cells based on the inducible expression of six transcription factors. We established inducible CRISPR interference and activation in this system and conducted three screens targeting the 'druggable genome'. These screens uncovered genes controlling microglia survival, activation and phagocytosis, including neurodegeneration-associated genes. A screen with single-cell RNA sequencing as the readout revealed that these microglia adopt a spectrum of states mirroring those observed in human brains and identified regulators of these states. A disease-associated state characterized by osteopontin (SPP1) expression was selectively depleted by colony-stimulating factor-1 (CSF1R) inhibition. Thus, our platform can systematically uncover regulators of microglial states, enabling their functional characterization and therapeutic targeting.
小胶质细胞正在成为神经疾病的关键驱动因素。然而,我们缺乏对潜在机制的系统理解。在这里,我们提出了一个筛选平台,用于系统阐明人类诱导多能干细胞衍生的小胶质细胞中遗传扰动的功能后果。我们开发了一种基于六种转录因子诱导表达的高效 8 天小胶质细胞样细胞生成方案。我们在该系统中建立了诱导性 CRISPR 干扰和激活,并针对“可成药基因组”进行了三次筛选。这些筛选揭示了控制小胶质细胞存活、激活和吞噬作用的基因,包括与神经退行性变相关的基因。以单细胞 RNA 测序作为读出的筛选揭示了这些小胶质细胞采用了一系列反映人类大脑中观察到的状态的谱,并确定了这些状态的调节剂。一种以骨桥蛋白 (SPP1) 表达为特征的疾病相关状态可通过集落刺激因子-1 (CSF1R) 抑制选择性耗尽。因此,我们的平台可以系统地发现小胶质细胞状态的调节剂,从而能够对其进行功能表征和治疗靶向。