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

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, PA, USA.

bioRxiv : the preprint server for biology

|July 15, 2024

概括

在ESRP1和ESRP2基因的遗传变异与口腔口腔裂 (OFC) 有关. 功能测试显示,许多预测的致病变体是良性的,强调了OFC研究中实验验证的必要性.

科学领域:

遗传学遗传学是一个
发展生物学发展生物学
遗传异常是一种先天性异常.

背景情况:

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

研究的目的:

功能性地评估人类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ESRP1和CTNND1在面发育中的功能关系.

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:

许多在中预测的致病性ESRP1/2变体在功能上是良性的.
ESRP1 调节 CTNND1.1 的替代拼接.
在esrp1/2斑马鱼突变体中,CTNND1的过度表达挽救了OFC表型.
在OFC患者中确定了13种CTNND1变异,证实了CTNND1在OFC中的作用.

结论:

功能性评估对于准确预测人类基因变异的致病性至关重要.
ESRP-CTNND1通路对于胚胎上皮细胞发育和口腔生成至关重要.
CTNND1 是一个关键基因,涉及到人类的口腔裂.

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