Functional characterization of an autism-related Foxp1 mutant Y435X

doi:10.3969/j.issn.1000-4718.2021.06.001

科研成果详情

题名	Functional characterization of an autism-related Foxp1 mutant Y435X
其他题名	自闭症相关 Foxp1 突变体 Y435X 的功能研究
作者	Tu, Xiao-Meng; Guo, Zhi-Qiang; Li, Xue
发表日期	2021-06-01
发表期刊	Chinese Journal of Pathophysiology; 影响因子和分区
语种	中文
原始文献类型	Article
关键词	Autism spectrum disorder Cortical neurons Foxp1 Y435X mutant N2a cells
摘要	AIM:To explore the relationship between mouse Foxp1 Y435X mutant(equivalent to human Y439X as indicated by protein sequence alignment)and pathogenesis of autism spectrum disorder. METHODS:The expression and function of Foxp1 Y435X mutant in mice were analyzed. The protein expression of Y435X mutant in mouse neuroblastoma N2a cells was determined by Western blot. The subcellular localization of Y435X mutant in N2a cells and primarily cultured mouse cortical neurons was ascertained by immunofluorescence. The effects of Y435X mutant on the localization of the cortical neurons and the development of apical dendrites were determined by in utero electroporation. RESULTS:The results of Western blot showed that mutant Y435X yielded a truncated product of ~56 kD with a higher level of expression than that of full-length Foxp1, which was detected at ~80 kD as expected. The Foxp1 Y435X mutant formed aggregates in the cytoplasm of N2a cells and shrinks the nuclear membrane as revealed by cellular immunofluorescence. The Y435X mutant altered the neuron positioning after birth and the growth direction of apical dendrites in the cerebral cortex of mice. CONCLUSION:Autism-related Foxp1 mutant Y435X forms aggregates inside the neurons and interferes with the postnatal positioning of the cortical neurons and the growth of the apical dendrites.
出版者	Editorial Board of Chinese Journal of Pathophysiology, Jinan University
ISSN	1000-4718
卷号	37 期号:6 页码:961-969
DOI	10.3969/j.issn.1000-4718.2021.06.001
收录类别	SCOPUS ; 万方
URL	查看原文
SCOPUSEID	2-s2.0-85169586564
通讯作者地址	[Li, Xue]State Key Laboratory of Ophthalmology,Optometry and Visual Science,School of Ophthalmology and Optometry,Eye Hospital,Wenzhou Medical University,Wenzhou,325027,China
Scopus学科分类	Pathology and Forensic Medicine;Physiology (medical);Medicine (miscellaneous)
万方分类号	R741.02(神经病学) ; R749.94(精神病学)
引用统计
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/213935
专题	眼视光学院（生物医学工程学院）、附属眼视光医院
通讯作者	Li, Xue
作者单位	State Key Laboratory of Ophthalmology,Optometry and Visual Science,School of Ophthalmology and Optometry,Eye Hospital,Wenzhou Medical University,Wenzhou,325027,China
第一作者单位	眼视光学院（生物医学工程学院）、附属眼视光医院
通讯作者单位	眼视光学院（生物医学工程学院）、附属眼视光医院
第一作者的第一单位	眼视光学院（生物医学工程学院）、附属眼视光医院
推荐引用方式 GB/T 7714	Tu, Xiao-Meng,Guo, Zhi-Qiang,Li, Xue. Functional characterization of an autism-related Foxp1 mutant Y435X[J]. Chinese Journal of Pathophysiology;,2021,37(6):961-969.
APA	Tu, Xiao-Meng, Guo, Zhi-Qiang, & Li, Xue. (2021). Functional characterization of an autism-related Foxp1 mutant Y435X. Chinese Journal of Pathophysiology;, 37(6), 961-969.
MLA	Tu, Xiao-Meng,et al."Functional characterization of an autism-related Foxp1 mutant Y435X".Chinese Journal of Pathophysiology; 37.6(2021):961-969.