Article
Arginine 54 and Tyrosine 118 residues of {alpha}A-crystallin are crucial for lens formation and transparency.
Investigative ophthalmology & visual science - 1 Jul 2006
Xia Chun-hong, Liu Haiquan, Chang Bo, Cheng Catherine, Cheung Debra, Wang Meng, Huang Qingling, Horwitz Joseph, Gong Xiaohua
Abstract excerpt
PURPOSE: To identify new mouse models for studying roles of alphaAlpha-crystallin in vivo and to investigate why and how different mutations of the alphaAlpha-crystallin gene lead to dominant or recessive cataracts. METHODS: Using mouse genetic approaches and slit lamp screening, we identified two mouse cataractous mutant lines. Causative genes were mapped by a genome-wide linkage analysis. DNA sequencing...
Topics
- Actins
- Animals
- Arginine
- Cataract
- Chromosome Mapping
- Disease Models, Animal
- Electrophoresis, Gel, Two-Dimensional
- Epithelial Cells
- Female
- Genes, Dominant
- Genes, Recessive
- Genetic Linkage
- Green Fluorescent Proteins