Reference : Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein ...
Scientific journals : Article
Life sciences : Genetics & genetic processes
Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts.
Graw, J. [> >]
Klopp, N. [> >]
Loster, J. [> >]
Soewarto, D. [> >]
Fuchs, H. [> >]
Becker-Follmann, J. [> >]
Reis, A. [> >]
Wolf, E. [> >]
Balling, Rudi mailto []
Habre de Angelis, M. [> >]
Yes (verified by ORBilu)
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.

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