| Reference : Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein ... |
| Scientific journals : Article | |||
| Life sciences : Genetics & genetic processes | |||
| http://hdl.handle.net/10993/1560 | |||
| Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts. | |
| English | |
| Graw, J. [> >] | |
| Klopp, N. [> >] | |
| Loster, J. [> >] | |
| Soewarto, D. [> >] | |
| Fuchs, H. [> >] | |
| Becker-Follmann, J. [> >] | |
| Reis, A. [> >] | |
| Wolf, E. [> >] | |
Balling, Rudi  [] | |
| Habre de Angelis, M. [> >] | |
| 2001 | |
| Genetics | |
| 157 | |
| 3 | |
| 1313-20 | |
| Yes (verified by ORBilu) | |
| 0016-6731 | |
| United States | |
| [en] Amino Acid Sequence ; Animals ; Base Sequence ; Blotting, Western ; Cataract/chemically induced/genetics ; Codon ; Crosses, Genetic ; Crystallins/genetics ; Electrophoresis, Polyacrylamide Gel ; Eye/metabolism ; Female ; Genetic Markers ; Haplotypes ; Lens, Crystalline/pathology ; Male ; Mice ; Models, Genetic ; Molecular Sequence Data ; Mutagens ; Mutation ; Open Reading Frames ; Polymerase Chain Reaction ; Sequence Homology, Nucleic Acid ; Software | |
| [en] A novel ENU-induced mutation in the mouse leading to a nuclear and zonular opacity of the eye lens (Aey1) was mapped to chromosome 1 between the markers D1Mit303 and D1Mit332. On the basis of the chromosomal position, the gamma-crystallin encoding gene cluster (Cryg) and the betaA2-crystallin encoding gene Cryba2 were tested as candidate genes. An A --> T mutation destroys the start codon of the Cryge gene in the mutants; this mutation was confirmed by the absence of a restriction site for NcoI in the corresponding genomic fragment of homozygous mutants. The next in-frame start codon is 129 bp downstream; this predicted truncated gammaE-crystallin consists of 131 amino acids, resulting in a molecular mass of 14 kD. However, another open reading frame was observed just 19 bp downstream of the regular Cryge start codon, resulting in a protein of 119 amino acids and a calculated molecular weight of 13 kD. Western blot analysis using polyclonal antibodies against gamma-crystallins or the novel Aey1-specific protein demonstrated the specific expression of the Aey1 protein in the cataractous lenses only; the truncated form of the gammaE-crystallin could not be detected. Therefore, it is concluded that the novel protein destroys the sensitive cellular structure of the eye lens. | |
| http://hdl.handle.net/10993/1560 |
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