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在单细胞分辨率下,人类大脑皮层的染色质和基因调节动力学

Alexandro E Trevino¹, Fabian Müller², Jimena Andersen³

¹Department of Genetics, Stanford University, Stanford, CA, USA.

|August 14, 2021

概括

研究人员绘制了大脑发育过程中的基因活动图, 以找到自闭症谱系障碍 (ASD) 的遗传原因. 这项研究确定了与自闭症相关的关键基因调节元件和突变,为神经发育疾病提供了洞察力.

科学领域:

神经科学
基因组学
发育生物学

背景情况:

影响皮层发育的遗传因素与自闭症谱系障碍 (ASD) 等神经发育障碍有关.
了解对皮质生成至关重要的基因组区域对于阐明疾病机制至关重要.

研究的目的:

识别关键的基因组区域和参与人类皮质生成的基因调节元素.
研究基因调节和非编码突变在自闭症谱系障碍 (ASD) 中的作用.

主要方法:

一个单细胞基因表达和染色体可访问性图谱的生成.
基因调节元件活动和转录因子 (TF) 结合位点的映射.
使用基对分辨率神经网络模型分析ASD队列中的非编码突变.

主要成果:

在分化过程中通过关键转录因子 (TF) 确定基因调节波.
质谱系的显著表达程序和确定谱系的TF.
在自闭症患者中发现细胞类型特定的破坏性非编码突变和破坏性TF结合位.

结论:

对基因调节的细胞类型特定映射为人类发育和疾病提供了洞察力.
这种方法可以确定神经发育障碍的遗传基础,
破坏的TF结合点和非编码突变与ASD的病因有关.

关键词:

自闭症谱系解码器发展人类大脑皮层多种类型一个细胞的ATAC-seq 一个细胞RNA-seq

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