How mice are indispensable for understanding obesity and diabetes genetics.
How mice are indispensable for understanding obesity and diabetes genetics.
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DOI：
10.1097/med.0000000000000321
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发表时间：
2017-04
期刊：
影响因子：
--
通讯作者：
Nadeau JH
中科院分区：
文献类型：
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作者：
Attie AD;Churchill GA;Nadeau JH
对人类遗传变异及其与疾病的关系进行编目的任务正在迅速接近完成。新的挑战是发现疾病相关基因的功能，并了解导致人类疾病的途径。我们认为，实现这一新的理解水平将越来越依赖于模式生物的使用。我们讨论了小鼠作为模式生物的优势。可用小鼠品系的集合代表了与在人群中发现的一样多的遗传和表型变异。然而，与人类不同的是，小鼠可以进行实验性育种方案，并且组织的可用性允许更大和更深层次的表型分析。基因编辑的新方法使得创建已知人类突变的小鼠模型相对容易。遗传遗传和表观遗传之间的区别可以非常详细地研究。粪便移植方案能够探索微生物组在生理学和疾病中的作用。我们认为，人类和模式生物研究之间将存在相互依存关系。技术进步和新的小鼠遗传筛选平台极大地改善了基因发现和基因功能机制研究的途径。
The task of cataloging human genetic variation and its relation to disease is rapidly approaching completion. The new challenge is to discover the function of disease-associated genes and to understand the pathways that lead to human disease. We propose that achieving this new level of understanding will increasingly rely on the use of model organisms. We discuss the advantages of the mouse as a model organism. The collection of available mouse strains represents as much genetic and phenotype variation as is found in the human population. However, unlike humans, mice can be subjected to experimental breeding protocols and the availability of tissues allows for a far greater and deeper level of phenotyping. New methods for gene editing make it relatively easy to create mouse models of known human mutations. The distinction between genetic and epigenetic inheritance can be studied in great detail. Fecal transplant protocols enable the exploration of the role of the microbiome in physiology and disease. We propose that there will be an interdependence between human and model organism research. Technological advances and new genetic screening platforms in the mouse have greatly improved the path to gene discovery and mechanistic studies of gene function.