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人类FMR1基因中的CGG重复调节mRNA局部化和发育神经元中的细胞应激

Carissa L Sirois¹, Yu Guo¹, Meng Li¹

¹Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA.

|June 12, 2024

概括

在FMR1基因中,CGG重复对神经元功能至关重要. 在人类干细胞中删除这些重复会改变神经元中的FMR1基因表达和应激反应.

科学领域:

神经科学是一个神经科学.
遗传学是一个遗传学.
分子生物学分子生物学

背景情况:

短串联重复 (STR) 在人类基因组中很丰富,但它们的功能在很大程度上是未知的.
脆弱X信使核糖蛋白1 (FMR1) 基因的5'未翻译区域 (UTR) 具有多态CGG重复,影响FMR1表达和健康,特别是在脆弱X综合征中.

研究的目的:

研究人类神经元中的FMR1基因内CGG重复的功能意义.
阐明这些重复在神经元平衡和应激反应中的作用.

主要方法:

在人类干细胞中的FMR1基因中删除CGG重复 (生成0CGG).
干细胞分化成神经元进行比较分析 (0CGG与正常31CGG重复).
评估FMR1mRNA和蛋白质定位,细胞应激蛋白表达,以及葡萄糖皮质体受体 (GR) 路径激活.

主要成果:

与31CGG神经元相比,来自0CGG干细胞的神经元表现出FMR1mRNA和蛋白质的细胞下局部改变.
在0CGG神经元中观察到细胞应激蛋白的差异表达.
0CGG神经元对葡萄糖皮质体受体 (GR) 激活表现出改变的反应,影响FMR1 mRNA定位,HSP90α表达,GR定位和压力蛋白水平.

结论:

在FMR1基因中,CGG重复在维持神经元对压力的恒常反应中起着至关重要的作用.
这些发现突出了CGG重复在调节神经元功能和应激弹性方面的新功能.

关键词:

5′ UTR 的时间.CGG重复了一遍.科普:分子生物学分子生物学科普:神经科学是什么意思 FMR1 FMR1 的使用情况.在FMRP中使用FMRP.在HSP90中,它是HSP90的.RNA局部化的RNA局部化德克萨米他是一种脆弱的X综合征脆弱的X综合征葡萄糖皮质类受体受体人类特异性的人类特异性.神经元神经元的神经元多能干细胞是一种多能干细胞.单个分子 FISH 鱼类压力就是压力,压力就是压力.三核酸重复的重复

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