常染色体隐性遗传小头畸形相关蛋白研究进展

doi:10.16288/j.yczz.19-070

遗传 ›› 2019, Vol. 41 ›› Issue (10): 905-918.doi: 10.16288/j.yczz.19-070

常染色体隐性遗传小头畸形相关蛋白研究进展

王玉杰,周小坤,徐丹()

福州大学生物科学与工程学院,福州 350108

收稿日期:2019-04-18 修回日期:2019-05-15 出版日期:2019-10-20 发布日期:2019-06-04
通讯作者: 徐丹 E-mail:xu200828@163.com
基金资助:
福建省自然科学基金项目资助编号：(2018J01730)

Update on autosomal recessive primary microcephaly (MCPH)-associated proteins

Yujie Wang,Xiaokun Zhou,Dan Xu()

College of Biological Science and Engineering, Fuzhou University, Fuzhou 350108, China

Received:2019-04-18 Revised:2019-05-15 Online:2019-10-20 Published:2019-06-04
Contact: Xu Dan E-mail:xu200828@163.com
Supported by:
Supported by the Natural Science Foundation of the Fujian Province No.(2018J01730)

摘要/Abstract

摘要：

脑发育相关疾病是一类影响大脑或中枢神经系统生长和发育的疾病。常染色体隐性遗传小头畸形(autosomal recessive primary microcephaly, MCPH)是一种神经系统发育障碍疾病,病人主要表现为头围减小,并伴随一定程度的智力衰退。迄今为止已发现至少有25个基因突变都会导致MCPH,根据它们发现的顺序分别命名为MCPH1~25。MCPH蛋白作为重要的成份参与调控大脑发育相关信号通路。本文对目前发现的25个MCPH相关蛋白的表达模式、细胞定位、分子生物学功能、表型及动物模型进行了综述,旨在提升人们对脑发育相关疾病的致病机制的认知,促进对神经元生成、脑尺寸大小及脑功能调控等分子机制的研究。

关键词: 小头畸形, 表达模式, 细胞组分, 表型概述, 分子生物学功能, 动物模型

Abstract:

Brain development diseases refer to a group of diseases that affect the development of the brain or the central nervous system. Autosomal recessive primary microcephaly (MCPH) is a typical neurodevelopmental disorder characterized by a decreased brain size, mental retardation and abnormal behaviors. To date, at least 25 genes have been discovered to cause MCPH when mutated. These genes were named MCPH1-25 according to the discovery order. MCPH proteins play important roles in regulating brain developmental signaling pathways. Here, we provide a timely review of the expression patterns, cellular localization, molecular functions, phenotypes, as well as animal models of these 25 MCPH proteins that will expedite our understanding of the pathogenesis of brain disorders at both molecular and cellular levels.

Key words: microcephaly, expression pattern, cellular component, phenotype overview, molecular function, animal models

王玉杰, 周小坤, 徐丹. 常染色体隐性遗传小头畸形相关蛋白研究进展[J]. 遗传, 2019, 41(10): 905-918.

Yujie Wang, Xiaokun Zhou, Dan Xu. Update on autosomal recessive primary microcephaly (MCPH)-associated proteins[J]. Hereditas(Beijing), 2019, 41(10): 905-918.

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常染色体隐性遗传小头畸形相关蛋白研究进展

Update on autosomal recessive primary microcephaly (MCPH)-associated proteins

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