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在现代人类中,DCHS1通过糖基化变化调节前脑比例

M Veronica Pravata^1,2, Andrea Forero¹, Ane C Ayo Martin²

¹Division of Physiological Genomics, Biomedical Center (BMC), Faculty of Medicine, Ludwig-Maximilians-University (LMU), Munich, Germany.

bioRxiv : the preprint server for biology

|June 4, 2025

概括

现代人类的一个特定基因突变,DCHS1,改变了大脑发育. 这种DCHS1基因的遗传变化导致了较小的新皮质和较大的条纹体,与灵长类大脑不同.

科学领域:

进化生物学是进化的生物学.
神经科学是一个神经科学.
遗传学是一个遗传学.

背景情况:

与状体相比,现代人类大脑呈现出不成比例地扩大的新皮质,这是一种与灵长类动物和已灭绝的原始人区分开来的特征.
了解这种独特的人类大脑组织的分子基础对于进化和发育神经科学至关重要.

研究的目的:

为了研究现代人类扩展新皮质相对于条状体的分子基础.
为了识别影响大脑结构的现代人类独特的特定基因突变.

主要方法:

查影响翻译后部位的高频率,人类特异性的误解突变,重点关注DCHS1基因.
使用CRISPR/Cas9基因编辑在人类诱导的多能干细胞 (hiPSCs) 中,将DCHS1恢复到它的祖先灵长类/尼安德特人变体.
使用hiPSCs衍生的神经器官来建模早期人类大脑发育和评估解剖变化.

主要成果:

一个特定的DCHS1突变,破坏一个N-糖化位,被确定为现代人类独有的.
在hiPSC中重新引入祖先的DCHS1变体,导致神经器官呈现出以新皮层为代价的条状前代的扩张.
埃弗林受体EPHA4被确定为DCHS1的结合伙伴,与人类特异性的DCHS1变化调节EPHA4-埃弗林信号传递.

结论:

现代人类特异性DCHS1的变化在塑造大脑发育过程中新皮质与皮质的比率方面发挥着重要作用.
DCHS1对EPHA4-ephrin信号的调节有助于在现代人类中观察到的独特的大脑组织.
这项研究为人类大脑的进化轨迹提供了分子洞察力,突出了特定基因变化在解剖学分歧中的作用.

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