The molecular basis of the sparse fur mouse mutation.
The molecular basis of the sparse fur mouse mutation.
复制标题
稀疏毛鼠突变的分子基础。
作者：
G. Veres;R. Gibbs;S. Scherer;C. Caskey
鸟氨酸转氨甲基酶缺陷的稀毛小鼠是研究最常见的人类尿素循环障碍的极佳模型。生化和酶学方法都很好地描述了突变的特征，但其确切性质尚未揭示。利用最近描述的两种快速突变分析技术的组合，已经鉴定了稀毛小鼠的鸟氨酸转氨基甲酸酶的互补DNA中的单碱基替换。这一策略比传统的互补DNA文库构建、筛选和测序更简单，后者经常用于发现新的突变。稀毛小鼠的鸟氨酸转氨基甲基酶基因包含一个C到A的转换，将117位氨基酸的组氨酸残基改变为天冬酰胺残基。
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.
一种检测和表征转录基因点突变的方法：人类肿瘤细胞中突变 c-Ki-ras 等位基因的扩增和过度表达。
DOI：
10.1073/pnas.82.22.7575
发表时间：
1985
影响因子：
11.1
作者：
Winter,E;Yamamoto,F;Almoguera,C;Perucho,M
通讯作者：
Perucho,M
编码大鼠鸟氨酸转氨甲酰酶的 cDNA 的分子克隆。
DOI：
10.1073/pnas.80.14.4258
发表时间：
1983
影响因子：
11.1
作者：
Horwich,AL;Kraus,JP;Williams,K;Kalousek,F;Konigsberg,W;Rosenberg,LE
通讯作者：
Rosenberg,LE
影响因子：
56.9
作者：
HORWICH, AL;FENTON, WA;ROSENBERG, LE
通讯作者：
ROSENBERG, LE