Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA.
Hum Genet. 2012 Jun;131(6):931-9. doi: 10.1007/s00439-011-1123-5. Epub 2011 Dec 15.
While substance abuse disorders only occur in humans, mice and other model organisms can make valuable contributions to genetic studies of these disorders. In this review, we consider a few specific examples of how model organisms have been used in conjunction with studies in humans to study the role of genetic factors in substance use disorders. In some examples genes that were first discovered in mice were subsequently studied in humans. In other examples genes or specific polymorphisms in genes were first studied in humans and then modeled in mice. Using anatomically and temporally specific genetic, pharmacological and other environmental manipulations in conjunction with histological analyses, mechanistic insights that would be difficult to obtain in humans have been obtained in mice. We hope these examples illustrate how novel biological insights about the effect of genes on substance use disorders can be obtained when mouse and human genetic studies are successfully integrated.
虽然物质滥用障碍仅发生在人类中,但小鼠和其他模式生物可以为这些障碍的遗传研究做出有价值的贡献。在这篇综述中,我们考虑了一些具体的例子,说明模式生物如何与人类研究结合使用,以研究遗传因素在物质使用障碍中的作用。在一些例子中,首先在小鼠中发现的基因随后在人类中进行了研究。在其他例子中,首先在人类中研究了基因或基因中的特定多态性,然后在小鼠中进行了建模。通过在组织学分析中结合使用解剖学和时间特异性遗传、药理学和其他环境操作,在小鼠中获得了难以在人类中获得的机制见解。我们希望这些例子说明,当成功整合小鼠和人类遗传研究时,如何获得关于基因对物质使用障碍影响的新生物学见解。