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Article (Scientific journals)
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. et al.
2001In Genetics, 157 (3), p. 1313-20
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Keywords :
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
Abstract :
[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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Graw, J.
Klopp, N.
Loster, J.
Soewarto, D.
Fuchs, H.
Becker-Follmann, J.
Reis, A.
Wolf, E.
Balling, Rudi 
Habre de Angelis, M.
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Title :
Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts.
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Peer reviewed
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