《生命科学》 2021, 33(11): 1400-1408

细胞黏附分子KIRREL3参与神经发育及神经精神疾病发展的研究进展

黄守卫¹ , 刘　慧¹ , 孟炜寒¹ , 曾　燕¹ , 魏　珍^1,2,*

¹武汉科技大学脑科学先进技术研究院，武汉 430065 ²职业危害识别与控制湖北省重点实验室，武汉 430065

摘　要：

KIRREL3 (kin of irregular chiasm-like 3) 又称Neph2，是一种包含免疫球蛋白结构域的跨膜蛋白，可通过胞内和胞外结构域与多种蛋白质相互作用，选择性地诱导神经元之间的突触形成，参与突触发育、神经元迁移和细胞内信号转导等生物学过程。KIRREL3 基因错义突变和拷贝数变异会减弱突触形成过程中其作为同质细胞识别标签，介导接触识别、黏附和下游突触发生信号的能力。该文系统地综述了 KIRREL3的结构和功能，有利于阐明细胞黏附分子介导的突触形成与调节在神经发育和人类疾病中的作用机制，为神经精神疾病的诊断和治疗提供新的思路和理论基础。

通讯作者：魏　珍 , Email:weizhen@wust.edu.cn

Study on the roles of cell adhesion molecule KIRREL3 in neurodevelopment and neuropsychiatric diseases

HUANG Shou-Wei¹ , LIU Hui¹ , MENG Wei-Han¹ , ZENG Yan¹ , WEI Zhen^1,2,*

¹Brain Science and Advanced Technology Institute, University of Science and Technology, Wuhan 430065, China ²Hubei Province Key Laboratory of Occupational Hazard Identification and Control, Wuhan 430065, China

Abstract:

KIRREL3 (kin of irregular chiasm-like 3), also known as Neph2, is a transmembrane protein containing immunoglobulin domains. It can selectively induce synaptic formation between neurons through the interaction by intracellular and extracellular domains with a variety of proteins. It participates in biological processes such as synaptic development, neuronal migration and intracellular signal transduction. The missense mutation and copy number variation (CNV) of KIRREL3 gene can weaken its ability to act as homogenous cell identification tags, mediate recognition, adhesion and downstream synaptic signals. A systematic understanding of the structure and function of KIRREL3 will help to clarify the mechanism of cell adhesion molecule-mediated synaptic formation and regulation in neurodevelopment and human diseases, and to provide new ideas and theoretical basis for the diagnosis and treatment of neuropsychiatric diseases.

Communication Author：WEI Zhen , Email:weizhen@wust.edu.cn