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空间多态学揭示了Wnt调制器Dkk2在巴拉特基因的作用

J O Piña^1,2, R Raju¹, D M Roth^1,3

¹Section on Craniofacial Genetic Disorders, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

Journal of dental research

|June 24, 2024

概括

转录因子Pax9对于口腔发育至关重要. 缺少它会破坏骨质分化和Wnt信号传递,导致小鼠的 palatal cleft.

科学领域:

头骨面部的发展
分子生物学分子生物学
发育遗传学的发展遗传学.

背景情况:

口腔裂是一种常见的头面部出生缺陷,具有复杂的遗传和环境原因.
了解骨质生成机制对于开发新的诊断和治疗方法至关重要.
转录因子Pax9在 palatal骨质生成中的作用仍然不完全理解.

研究的目的:

用一个缺乏Pax9的小鼠模型研究Pax9在 palatal骨质生成中的功能.
阐明了Pax9介导的口腔骨质分化的调节背后的分子机制.

主要方法:

单核转录组学单核转录组学
染色体可访问性测定
在现场高度多重的目标单细胞空间配置文件.
对Pax9-/-小鼠模型的分析,该模型具有裂口二级 palatal 现型.

主要成果:

失去Pax9会破坏 palatal介质细胞的正常骨分化.
帕克斯9缺陷导致局限空间的骨质性领域,其边界为Dkk2.
在口腔中,Pax9+细胞和骨质原生种群之间存在明显的关系.

结论:

帕克斯9在调节 palatal 骨质生成方面发挥着至关重要的作用.
帕克斯9依赖的Wnt信号调节器在 palatal 形成过程中影响骨质生成编程.
破坏Pax9功能有助于 palatal裂的病变发生.

关键词:

裂口口腔的 palatum 是一个口腔的裂口.头骨脸部异常情况头骨面部生物学/遗传学基因表达的基因表达方式信号传导的信号传导.一个单细胞测序.

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