代谢的系统遗传学:使用BXD小鼠参考面板来实现特征的多层次整合
Pénélope A Andreux1, Evan G Williams, Hana Koutnikova
1Laboratory of Integrative and Systems Physiology, School of Life Sciences, École Polytechnique Fédérale de Lausanne 1015, Switzerland.
Cell
|September 4, 2012
概括
这项研究使用了多种不同的小鼠菌株来绘制代谢特征的遗传控制,识别了复杂疾病的新型基因联系. 这些发现为系统遗传学研究提供了宝贵的资源.
科学领域:
- 遗传学 是一个遗传学.
- 代谢过程中的代谢.
- 系统生物学 系统生物学
背景情况:
- 代谢平衡依赖于复杂的网络,这些网络在个体上有所不同.
- 通过传统的基因工程小鼠模型来研究这些网络具有挑战性.
- 同源但多样化的小鼠菌株为剖析代谢复杂性提供了强大的工具.
研究的目的:
- 系统地获取和分析大小小鼠菌株组中的代谢表型.
- 用系统遗传学方法研究代谢的遗传控制.
- 识别基因位置和候选基因,这些基因是代谢特征和疾病的基础.
主要方法:
- 使用EUMODIC EMPReSS协议进行系统的表型化.
- 产生和分析了140种经典代谢表型.
- 使用定量特征位置 (QTL) 和表达式QTL映射来检查遗传影响.
主要成果:
- 产生了140个代谢表型的大数据集,并公开提供.
- 分析了遗传性,性别影响和特征的遗传修饰剂.
- 将代谢特征与遗传位置联系起来,包括新型候选基因和已知的变体,如与低度症相关的ALPL.
结论:
- 这项研究为剖析复杂的代谢特征和疾病提供了宝贵的资源.
- 展示了各种小鼠菌株面板对系统遗传学的有用性.
- 确定了对新陈代谢调节和疾病的新型遗传见解.
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