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Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene.
Graw, J.; Loster, J.; Soewarto, D. et al.
2001In Investigative Ophthalmology and Visual Science, 42 (12), p. 2909-15
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Keywords :
Amino Acid Sequence; Animals; Base Sequence; Cataract/genetics/metabolism/pathology; Chromosome Mapping; Chromosomes/genetics; Crystallins/genetics/metabolism; DNA Mutational Analysis; DNA Primers/chemistry; Female; Genes, Dominant; Genetic Linkage; Lens, Crystalline/metabolism/pathology; Male; Mice; Mice, Inbred C3H; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Sequence Analysis, DNA
Abstract :
[en] PURPOSE: During an ethylnitrosourea (ENU) mutagenesis screening, mice were tested for the occurrence of dominant cataracts. The purpose of the study was morphologic description, mapping of the mutant gene, and characterization of the underlying molecular lesion in a particular mutant, Aey7. METHODS: Isolated lenses were photographed and histologic sections of the eye were analyzed according to standard procedures. Linkage analysis was performed with a set of microsatellite markers covering all autosomal chromosomes. cDNA was amplified after reverse transcription of lens mRNA. For PCR, cDNA or genomic DNA was used as a template. RESULTS: Nuclear opacity and posterior suture anomaly were visible at eye opening and progressed to a nuclear and zonular cataract at 2 months of age. The opacity as well as the microphthalmia was more pronounced in the homozygotes than in the heterozygotes. The mutation was mapped to chromosome 17 between the markers D17Mit133 and D17Mit180. This position made the alphaA-crystallin-encoding gene (Cryaa) an excellent candidate gene. Sequence analysis revealed a mutation of a T to an A at position 371 in the Cryaa cDNA. The mutation was confirmed by an additional MnlI restriction site in the genomic DNA of homozygous mutants leading to replacement of Val with Glu at codon 124 affecting the C-terminal region of the alphaA-crystallin. CONCLUSIONS: The Aey7 mutant represents the first dominant mouse cataract mutation affecting the Cryaa gene. The mutation leads to progressive opacification of the lens. Compared with the beta- and gamma-crystallin-encoding genes, mutations in the alpha-crystallin-encoding genes are rare.
Disciplines :
Genetics & genetic processes
Author, co-author :
Graw, J.
Loster, J.
Soewarto, D.
Fuchs, H.
Meyer, B.
Reis, A.
Wolf, E.
BALLING, Rudi 
Hrabe de Angelis, M.
Language :
English
Title :
Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene.
Publication date :
2001
Journal title :
Investigative Ophthalmology and Visual Science
ISSN :
0146-0404
eISSN :
1552-5783
Publisher :
Association for Research in Vision and Ophthalmology, United States - Massachusetts
Volume :
42
Issue :
12
Pages :
2909-15
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBilu :
since 15 May 2013

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