Medical Research Council Clinical Sciences Centre, Imperial College, London, UK.
Nat Rev Genet. 2011 Jul 18;12(8):575-82. doi: 10.1038/nrg3047.
Model organisms have played a huge part in the history of studies of human genetic disease, both in identifying disease genes and characterizing their normal and abnormal functions. But is the importance of model organisms diminishing? The direct discovery of disease genes and variants in humans has been revolutionized, first by genome-wide association studies and now by whole-genome sequencing. Not only is it now much easier to directly identify potential disease genes in humans, but the genetic architecture that is being revealed in many cases is hard to replicate in model organisms. Furthermore, disease modelling can be done with increasing effectiveness using human cells. Where does this leave non-human models of disease?
模式生物在人类遗传疾病研究的历史中扮演了重要的角色，既可以用于鉴定疾病基因，也可以用于研究其正常和异常功能。但是，模式生物的重要性正在降低吗？人类疾病基因和变异的直接发现已经经历了革命性的变化，先是全基因组关联研究，现在是全基因组测序。现在不仅更容易直接在人类中鉴定出潜在的疾病基因，而且在许多情况下揭示的遗传结构也很难在模式生物中复制。此外，使用人类细胞可以越来越有效地进行疾病建模。那么，这对疾病的非人类模型意味着什么呢？
