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在RUNX2中C端突变的功能后果

Sermporn Thaweesapphithak^1,2, Thanakorn Theerapanon¹, Khanti Rattanapornsompong¹

¹Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand.

Scientific reports

|July 27, 2023

概括

在RUNX2 C端域中的基因突变会通过影响骨和牙发育,导致cleidocranial dysplasia (CCD). 这些RUNX2突变导致蛋白质错位化和基因表达减少,损害骨形成.

科学领域:

遗传学遗传学是一个
分子生物学分子生物学
发展生物学发展生物学

背景情况:

脑膜形 (CCD) 是一种影响骨和牙发育的遗传性疾病.
RUNX2基因的突变是CCD的主要原因.
以前的研究主要集中在RUNX2 RHD域突变上,对C端域改变的探索有限.

研究的目的:

研究RUNX2基因C端域突变的功能影响.
分析这些突变如何影响RUNX2蛋白活性,局部化和表达.
了解C端RUNX2突变对结核骨张力症的发病的贡献.

主要方法:

对8个RUNX2 C端突变的分析.
评估突变RUNX2蛋白质的交换活化活性,蛋白质表达和亚细胞定位.
研究来自CCD患者中介细胞干细胞 (MSC) 的骨质生成潜力.

主要成果:

在PST区域的截断突变和NMTS区域的误解突变增加了RUNX2的交换活化活动.
在PST地区的Missense突变显示了类似于对照者的交易活化活动.
突变的RUNX2蛋白质,特别是截断的形式,被错误地定位到细胞质中,反映了CCD患者细胞中的观察.

结论:

C端RUNX2突变可能导致异常的蛋白质功能,包括改变的交换激活和错位化.
在患者衍生细胞中,RUNX2错位化和下游基因表达的减少损害了骨质生成潜力.
这项研究阐明了RUNX2 C-终端突变在单骨发育不良的发病过程中的作用.

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