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http://purl.uniprot.org/citations/19619312http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
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Background

AlphaA-crystallin (CRYAA/HSPB4), a major component of all vertebrate eye lenses, is a small heat shock protein responsible for maintaining lens transparency. The R49C mutation in the alphaA-crystallin protein is linked with non-syndromic, hereditary human cataracts in a four-generation Caucasian family.

Methods

This study describes a mouse cataract model generated by insertion of a neomycin-resistant (neor) gene into an intron of the gene encoding mutant R49C alphaA-crystallin. Mice carrying the neor gene and wild-type Cryaa were also generated as controls. Heterozygous knock-in mice containing one wild type gene and one mutated gene for alphaA-crystallin (WT/R49Cneo) and homozygous knock-in mice containing two mutated genes (R49Cneo/R49Cneo) were compared.

Results

By 3 weeks, WT/R49Cneo mice exhibited large vacuoles in the cortical region 100 mum from the lens surface, and by 3 months posterior and nuclear cataracts had developed. WT/R49Cneo mice demonstrated severe posterior cataracts at 9 months of age, with considerable posterior nuclear migration evident in histological sections. R49Cneo/R49Cneo mice demonstrated nearly complete lens opacities by 5 months of age. In contrast, R49C mice in which the neor gene was deleted by breeding with CreEIIa mice developed lens abnormalities at birth, suggesting that the neor gene may suppress expression of mutant R49C alphaA-crystallin protein.

Conclusion

It is apparent that modification of membrane and cell-cell interactions occurs in the presence of the alphaA-crystallin mutation and rapidly leads to lens cell pathology in vivo."xsd:string
http://purl.uniprot.org/citations/19619312http://purl.org/dc/terms/identifier"doi:10.1186/1471-2415-9-4"xsd:string
http://purl.uniprot.org/citations/19619312http://purl.uniprot.org/core/author"Andley U.P."xsd:string
http://purl.uniprot.org/citations/19619312http://purl.uniprot.org/core/date"2009"xsd:gYear
http://purl.uniprot.org/citations/19619312http://purl.uniprot.org/core/name"BMC Ophthalmol"xsd:string
http://purl.uniprot.org/citations/19619312http://purl.uniprot.org/core/pages"4"xsd:string
http://purl.uniprot.org/citations/19619312http://purl.uniprot.org/core/title"AlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice."xsd:string
http://purl.uniprot.org/citations/19619312http://purl.uniprot.org/core/volume"9"xsd:string
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