Mouse Models of Human Variation and Disease

实验室小鼠是研究人类基因突变或变异影响的极好模型。新的方法现在使我们能够在小鼠的DNA中产生非常精确的变化，模仿人类的遗传变化，并观察对小鼠生物学的影响。该方案有两个方面。首先是研究基因突变对眼睛的影响，了解为什么基因的丢失或变化会导致视网膜缺陷并影响视力。第二个方面是解开人类头发颜色的遗传学。虽然头发颜色遗传学很复杂（我们已经发现了100多个相关基因），但它比影响许多常见疾病的遗传学要简单得多。了解头发颜色遗传学是一个“中途之家”，以充分了解这些重要的疾病遗传学。在某些情况下，我们会将遗传变化引入小鼠，以观察对毛发颜色生物学的影响。在大多数情况下，我们将使用在实验室中生长的人类细胞，并在其中产生变化，以测量对基因的影响。

Laboratory mice are excellent models for the effects of human genetic mutations or variation. New methods now allow us to produce very precise changes in the DNA of mice, to mimic human genetic changes, and to see the effect on the biology of the mouse. This programme has two aspects. The first is to study the effects of genetic mutations on the eye, to understand why loss or change in a gene leads to faults in the retina and to effect on vision. The second aspect is to unravel the genetics of human hair colour. Although hair colour genetics is complicated (we have found more than 100 genes that are involved) it is much simpler than the genetics affecting many common diseases. Understanding hair colour genetics is a “halfway house” to a full understanding of these important disease genetics. In some cases we will introduce genetic changes into mice to see the effect on hair colour biology. In most cases we will use human cells grown in the laboratory and produce changes in them to measure the effect on the genes.