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阅读障碍易感性蛋白KIAA0319通过Smad2信号通路抑制轴突生长。

The Dyslexia-susceptibility Protein KIAA0319 Inhibits Axon Growth Through Smad2 Signaling.

作者信息

Franquinho Filipa, Nogueira-Rodrigues Joana, Duarte Joana M, Esteves Sofia S, Carter-Su Christin, Monaco Anthony P, Molnár Zoltán, Velayos-Baeza Antonio, Brites Pedro, Sousa Mónica M

机构信息

Nerve Regeneration group, Instituto de Biologia Molecular e Celular - IBMC and Instituto de Inovação e Investigação em Saúde, University of Porto, 4200-135 Porto, Portugal.

Instituto de Ciências Biomédicas Abel Salazar - ICBAS, 4050-313 Porto, Portugal.

出版信息

Cereb Cortex. 2017 Mar 1;27(3):1732-1747. doi: 10.1093/cercor/bhx023.

Abstract

KIAA0319 is a transmembrane protein associated with dyslexia with a presumed role in neuronal migration. Here we show that KIAA0319 expression is not restricted to the brain but also occurs in sensory and spinal cord neurons, increasing from early postnatal stages to adulthood and being downregulated by injury. This suggested that KIAA0319 participates in functions unrelated to neuronal migration. Supporting this hypothesis, overexpression of KIAA0319 repressed axon growth in hippocampal and dorsal root ganglia neurons; the intracellular domain of KIAA0319 was sufficient to elicit this effect. A similar inhibitory effect was observed in vivo as axon regeneration was impaired after transduction of sensory neurons with KIAA0319. Conversely, the deletion of Kiaa0319 in neurons increased neurite outgrowth in vitro and improved axon regeneration in vivo. At the mechanistic level, KIAA0319 engaged the JAK2-SH2B1 pathway to activate Smad2, which played a central role in KIAA0319-mediated repression of axon growth. In summary, we establish KIAA0319 as a novel player in axon growth and regeneration with the ability to repress the intrinsic growth potential of axons. This study describes a novel regulatory mechanism operating during peripheral nervous system and central nervous system axon growth, and offers novel targets for the development of effective therapies to promote axon regeneration.

摘要

KIAA0319是一种与阅读障碍相关的跨膜蛋白,在神经元迁移中可能发挥作用。我们在此表明,KIAA0319的表达不仅局限于大脑,在感觉神经元和脊髓神经元中也有表达,从出生后早期到成年期表达量增加,且在损伤后表达下调。这表明KIAA0319参与了与神经元迁移无关的功能。支持这一假设的是,KIAA0319的过表达抑制了海马体和背根神经节神经元的轴突生长;KIAA0319的细胞内结构域足以引发这种效应。在用KIAA0319转导感觉神经元后,轴突再生受损,在体内也观察到了类似的抑制作用。相反,神经元中Kiaa0319的缺失在体外增加了神经突的生长,在体内改善了轴突再生。在机制层面,KIAA0319参与JAK2 - SH2B1通路以激活Smad2,Smad2在KIAA0319介导的轴突生长抑制中起核心作用。总之,我们确定KIAA0319是轴突生长和再生中的一个新因子,具有抑制轴突内在生长潜力的能力。本研究描述了一种在周围神经系统和中枢神经系统轴突生长过程中起作用的新型调节机制,并为开发促进轴突再生的有效疗法提供了新的靶点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9f2/5905272/10085a172571/bhx023f01.jpg

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