Caspary Tamara, Anderson Kathryn V
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
Dev Dyn. 2006 Sep;235(9):2412-23. doi: 10.1002/dvdy.20853.
Phenotype-based chemical mutagenesis screens for mouse mutations have undergone a transformation in the past five years from a potential approach to a practical tool. This change has been driven by the relative ease of identifying causative mutations now that the complete genome sequence is available. These unbiased screens make it possible to identify genes, gene functions and processes that are uniquely important to mammals. In addition, because chemical mutagenesis generally induces point mutations, these alleles often uncover previously unappreciated functions of known proteins. Here we provide examples of the success stories from forward genetic screens, emphasizing the examples that illustrate the discovery of mammalian-specific processes that could not be discovered in other model organisms. As the efficiency of sequencing and mutation detection continues to improve, it is likely that forward genetic screens will provide an even more important part of the repertoire of mouse genetics in the future.
在过去五年中，基于表型的小鼠突变化学诱变筛选已从一种潜在方法转变为一种实用工具。这种变化是由现在有了完整基因组序列后相对容易识别致病突变所推动的。这些无偏向性的筛选使得识别对哺乳动物具有独特重要性的基因、基因功能和过程成为可能。此外，由于化学诱变通常诱导点突变，这些等位基因常常揭示已知蛋白质以前未被认识到的功能。在这里，我们提供正向遗传学筛选成功案例的例子，重点强调那些说明发现了在其他模式生物中无法发现的哺乳动物特异性过程的例子。随着测序和突变检测效率的不断提高，正向遗传学筛选在未来很可能会在小鼠遗传学方法中发挥更重要的作用。
