尼安德特人衍生的变体增加了 SOX9 增强剂在面前代中的活性,这些变体塑造了部发育
Kirsty Uttley1, Hannah J Jüllig1, Carlo De Angelis1
1MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Crewe Road South, Edinburgh EH4 2XU, UK.
概括
面部发育基因增强剂 (EC1.45) 中的尼安德特人变体增加了它的活性. 这表明尼安德特人的遗传贡献可能影响了微妙的人类面形态和进化.
科学领域:
- 进化生物学是进化的生物学.
- 遗传学 是一个遗传学.
- 发育生物学是发展生物学.
背景情况:
- 由于遗传因素,人类面部外观是高度可变的.
- 在SOX9基因增强剂 (EC1.45) 附近的删除会导致皮埃尔·罗宾序列,影响下巴和 palatal 发育.
研究的目的:
- 调查EC1.45内的单核酸变体是否会影响微妙的面部形状变化.
- 检查三种尼安德特人衍生的变体对EC1.45活动的功能影响.
主要方法:
- 使用斑马鱼双增强剂-报告剂测试来评估EC1.45活动.
- 分析了尼安德特人衍生的变体对神经前代细胞中增强器功能的影响.
- 在EC1.45活性细胞中过度表达SOX9,以观察对面前体前体的影响.
主要成果:
- 在关键的发育窗口期间,在神经前代细胞中观察到尼安德特人EC1.45的较高活性.
- 已识别的EC1.45活性细胞在转录上与面骨前体有关.
- SOX9的过度表达导致了扩大的软骨前体体积.
结论:
- 尼安德特人衍生的变体可以增加与疾病相关的增强剂 (EC1.45) 的调节活性.
- 这一监管变化对人类进化中的面形态有潜在的影响.
- 表明尼安德特人的遗传贡献在塑造人类面部发育中的作用.
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