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Graw, J. ; Klopp, N. ; Löster, J. ; Soewarto, D. ; Fuchs, H. ; Becker-Follmann, J.* ; Reis, A.* ; Wolf, E.* ; Balling, R. ; Hrabě de Angelis, M.

Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts.

Genetics 157, 1313-1320 (2001)
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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 beta A2-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 do 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 Aeyl-specific protein demonstrated the specific expression of the Aeyl 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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Publication type Article: Journal article
Document type Scientific Article
Keywords crystallin gene; gamma-crystallins; mouse; evolution; mutant
ISSN (print) / ISBN 0016-6731
e-ISSN 0016-6731
Journal Genetics
Quellenangaben Volume: 157 , Issue: 3, Pages: 1313-1320 Article Number: , Supplement: ,
Publisher Genetics Society of America
Reviewing status Peer reviewed