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TFAP2E涉及到中枢神经系统,口腔面部和面部异常

Jeshurun C Kalanithy^1,2, Enrico Mingardo^2,3, Jil D Stegmann^2,3

¹Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany jkalanithy@uni-bonn.de.

Journal of medical genetics

|December 23, 2024

概括

转录因子TFAP2E的遗传变异与中枢神经系统,脸部和下巴的先天性异常有关. 斑马鱼研究证实了TFAP2E的存在.

科学领域:

发展生物学发展生物学
人类遗传学人类遗传学
神经科学是一个神经科学.

背景情况:

转录因子TFAP2E (转录因子AP-2epsilon) 在模型生物中的神经和神经前代细胞中表达.
人类TFAP2E在胚胎中枢神经系统 (CNS),口腔面部和大面部发育中的作用仍然在很大程度上未被描述.

研究的目的:

研究人类TFAP2E在胚胎中枢神经系统,口腔面部和大面部发育中的作用.
确定TFAP2E中与这些发育领域的先天性异常相关的遗传变异.

主要方法:

对具有先天性中枢神经系统,口腔面部和大面部异常的个体进行了外测序.
在斑马鱼胚胎中进行了TFAP2E的功能分析,使用了反感性形态突击,CRISPR/Cas9突击和mRNA过度表达.
在体内显微镜和计算结构蛋白模型被用于评估胚胎发育和变异影响.

主要成果:

在5个家族中发现了TFAP2E的新型异构合错误变体,其中包括中枢神经系统,口腔面部和大面部异常.
斑马鱼tfap2e的淘汰和淘汰模型表现出水头症,小头症和耳面/大面缺陷,重述了人类的表型.
蛋白质建模表明,已识别的TFAP2E变异可能会损害交换活化或二元化功能;过度表达表明剂量敏感性.

结论:

人类遗传数据表明,TFAP2E变异与先天性中枢神经系统,口腔面部和口面部异常有关.
斑马鱼模型研究支持TFAP2E在这些结构的胚胎发育中的关键作用.

关键词:

中枢神经系统疾病中枢神经系统疾病遗传性疾病,先天性疾病头部液体 (Hydrocephalus) 是一种脑水性.整体外体序列测序整个外体序列测序

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