Veres G, Gibbs R A, Scherer S E, Caskey C T
Science. 1987 Jul 24;237(4813):415-7. doi: 10.1126/science.3603027.
The ornithine transcarbamylase-deficient sparse fur mouse is an excellent model to study the most common human urea cycle disorder. The mutation has been well characterized by both biochemical and enzymological methods, but its exact nature has not been revealed. A single base substitution in the complementary DNA for ornithine transcarbamylase from the sparse fur mouse has been identified by means of a combination of two recently described techniques for rapid mutational analysis. This strategy is simpler than conventional complementary DNA library construction, screening, and sequencing, which has often been used to find a new mutation. The ornithine transcarbamylase gene in the sparse fur mouse contains a C to A transversion that alters a histidine residue to an asparagine residue at amino acid 117.
鸟氨酸转氨甲酰酶缺陷型稀毛小鼠是研究人类最常见尿素循环障碍的优良模型。该突变已通过生化和酶学方法得到充分表征，但其确切性质尚未揭示。通过最近描述的两种快速突变分析技术相结合的方法，已在稀毛小鼠的鸟氨酸转氨甲酰酶互补DNA中鉴定出一个单碱基替换。该策略比常用于寻找新突变的传统互补DNA文库构建、筛选和测序方法更简单。稀毛小鼠中的鸟氨酸转氨甲酰酶基因包含一个从C到A的颠换，该颠换将第117位氨基酸的组氨酸残基改变为天冬酰胺残基。
