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

Genetics. 2001 Mar;157(3):1313-20. doi: 10.1093/genetics/157.3.1313.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Western
  • Cataract / chemically induced*
  • Cataract / 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

Substances

  • Codon
  • Crystallins
  • Genetic Markers
  • Mutagens