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功能性分析ESRP1/2基因变异和CTNND1异型在面腔裂发病原体中的功能性分析

Caroline Caetano da Silva¹, Claudio Macias Trevino², Jason Mitchell³

¹Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Communications biology

|August 23, 2024

概括

表皮RNA拼接调节器ESRP1和ESRP2对于面发育至关重要. 这些基因和CTNND1的干扰会导致面腔裂,突出显示需要功能变异评估.

科学领域:

发展生物学发展生物学
遗传学是一个遗传学.
分子生物学分子生物学

背景情况:

耳面裂 (OFC) 是一种常见的先天性异常.
表皮特异性RNA剪接调节器ESRP1和ESRP2对于面发育至关重要.
在ESRP1/2中的干扰会导致各种模型生物和人类的OFC.

研究的目的:

功能性评估人类ESRP1/2基因变异的致病性.
调查CTNND1在OFC病变发生中的作用.
了解胚胎上皮质中Esrp-Ctnnd1相互作用的功能要求,以实现口腔生成.

主要方法:

使用esrp1/2突变斑马鱼和小鼠Py2T细胞系模型.
对人类ESRP1/2基因变异进行了功能测试.
进行了OFC队列的基因组测序,以识别CTNND1变异.

主要成果:

许多in silico预测的致病性ESRP1/2变体在功能上是良性的.
Esrp1 调节 Ctnnd1 替代拼接;它们在胚胎口腔表皮中共同表达.
在esrp1/2斑马鱼突变体中,CTNND1的过度表达挽救了表皮形态发生缺陷.
在OFC队列中确定了13种CTNND1变异,证实了CTNND1在人类OFC中的作用.

结论:

功能评估对于评估人类基因变异至关重要.
胚胎上皮质中的Esrp-Ctnnd1信号传递对于正常的口腔发育至关重要.
CTNND1 是一个关键基因,涉及到人类的口腔裂.

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