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J Dent Res：ARHGAP29基因突变导致异常的口腔上皮粘连

2017-08-24 MedSci MedSci原创

ARHGAP29突变上皮粘连腭裂
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非综合征性的唇/腭裂(NSCL/P)是由复杂病因引起的一种流行性出生缺陷。之前的研究发现，ARHGAP29基因突变与NSCL/P发生风险的增加有关。为了检验ARHGAP29在体内的影响，研究者通过向小鼠基因组中插入一个从NSCL/P患者识别到的点突变体，以此构建一个全新的小鼠等位基因。

非综合征性的唇/腭裂(NSCL/P)是由复杂病因引起的一种流行性出生缺陷。之前的研究发现，ARHGAP29基因突变与NSCL/P发生风险的增加有关。为了检验ARHGAP29在体内的影响，研究者通过向小鼠基因组中插入一个从NSCL/P患者识别到的点突变体，以此构建一个全新的小鼠等位基因。研究发现，这个ARHGAP29基因的单核苷酸变异可以翻译一个早期的无义突变(K326X)，可能会导致功能缺失(LoF)。研究在不同时间点提取Arhgap29K326X/+小鼠杂交的胚胎。对45组同窝小鼠在胚胎8.5天(e8.5)的分析评估显示，未发现纯合子Arhgap29K326X转基因小鼠的出现。对e13.5和e14.5小鼠头部冠状切面的研究发现，有59%的Arhgap29K326X/+小鼠( n = 37)在发育的口腔结构中展现出不当的上皮连接，而在野生小鼠中却并未发现( n = 10)。除此之外，Arhgap29K326X/+小鼠胚胎表现出明显比例增高的上下颌上皮连接。对表皮和口腔粘连的免疫荧光分析显示，在表皮细胞中存在Arhgap29的表达。虽然这些细胞排列偶尔无序，但存在于粘连的部位，并且p63

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    2017-08-26 往日如昨

    继续学习中谢谢

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    2017-08-26 往日如昨

    学习了谢谢分享

    0

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    2017-08-24 1ddf0692m34(暂无匿称)

    学习了.涨知识

    0