一种TAF11变异只通过调节神经细胞迁移而导致非综合征裂唇
Dandan Li1,2,3, Yu Tian4, Barbara Vona5,6
1Department of Orthodontics, The Affiliated Stomatological Hospital of Nanjing Medical University, No. 1 Shanghai Road, Gulou District, Nanjing 210029, China.
Human molecular genetics
|December 27, 2024
概括
一种TAF11基因变异与非综合征性裂唇 (NSCLO) 相关. 这种变异通过改变CDH1和CTNND1表达来影响细胞迁移,影响面发育.
科学领域:
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
- 分子生物学分子生物学
背景情况:
- 只有非综合征裂唇 (NSCLO) 是一种常见的出生缺陷,具有复杂的病因.
- 遗传因素在NSCLO中发挥着重要作用,但致病基因尚未完全理解.
研究的目的:
- 为了研究TAF11基因变异 (NC_000006.12:g.34887814C>G) 的功能作用,在一个中国家族中发现了NSCLO.
- 阐明这种TAF11变体对NSCLO的贡献的分子机制.
主要方法:
- 染色体免疫沉 (ChIP),电泳运动转移试验和超转移试验,以评估蛋白质-DNA相互作用.
- RNA测序,基因本体学 (GO),KEGG途径分析和双露西法酶记者测试用于分析基因表达和调节.
- 斑马鱼模型 (Alcian蓝色染色,时隔摄影,现场杂交,免疫光,TUNEL试验) 来评估面发育和细胞行为.
主要成果:
- TAF11变体 (g.34887814C>G) 增加了STAT1和STAT3的招募,导致TAF11的表达升高.
- 发现TAF11通过抑制它们的促进剂活性,在细胞粘附通路中降低CDH1和CTNND1的调节.
- 过度表达TAF11扰乱了神经细胞迁移,损害了面发育,增加了斑马鱼的死亡率和形率.
结论:
- 一种功能相关的TAF11变异与NSCLO的病因有关.
- 该变体通过调节CDH1和CTNND1表达来影响细胞迁移,从而影响面发育.
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