人类面发育中的动态增强器景观
Sudha Sunil Rajderkar1, Kitt Paraiso1, Maria Luisa Amaral2
1Environmental Genomics & System Biology Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA, 94720, USA.
Nature communications
|March 6, 2024
概括
了解人类面部发育和出生缺陷是一项挑战. 这项研究绘制了面增强剂的地图,揭示了它们的活动模式,以帮助遗传研究.
科学领域:
- 遗传学和发育生物学
- 发展的基因组调节
背景情况:
- 人类面部变异和头骨面部出生缺陷的遗传基础尚未得到充分理解.
- 转录增强剂在面发育过程中对于精确的基因表达至关重要,但它们的基因组位置和细胞特异性活动在很大程度上未被绘制出来.
研究的目的:
- 创建一个全面地图的监管景观管理人类面发育.
- 在单细胞分辨率下识别和描述面增强剂及其活动模式.
主要方法:
- 集成的组织蛋白修饰,染色质可访问性和人类面发育的基因表达概况.
- 采用对正在发育的小鼠脸部单细胞分析来推断增强剂的活性.
- 为成千上万的人类面增强器生成时间活动档案.
主要成果:
- 定义了面部发育在组织和单细胞分辨率的监管格局.
- 提供了14,000个人类发育面增强器的时间活动概况.
- 在小鼠模型中确定了56%的人类面增强剂的保存色素可访问性,预测了它们在细胞类型和胚胎阶段的体内活性.
结论:
- 这项研究为研究人类面发育的遗传和发育基础提供了广泛的资源.
- 这些数据有助于在人类遗传学和疾病研究中对面增强剂进行系统的探索.
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