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Publication : Polymorphism in the murine Tr2-11 gene encoding an orphan receptor, and its exclusion as a candidate gene for the cataract mutation Cat3.

First Author  Immervoll T Year  1998
Journal  Biol Chem Volume  379
Issue  1 Pages  83-5
PubMed ID  9504722 Mgi Jnum  J:46502
Mgi Id  MGI:1201249 Citation  Immervoll T, et al. (1998) Polymorphism in the murine Tr2-11 gene encoding an orphan receptor, and its exclusion as a candidate gene for the cataract mutation Cat3. Biol Chem 379(1):83-5
abstractText  Since the dominant cataract mutation Cat3 was mapped very closely to the murine nuclear receptor Tr2-11 gene locus, the corresponding coding region was amplified by PCR using either genomic DNA or eye-derived cDNA of wild-type (C3Hx102)F-1 and of homozygous Cat3 cataract animals. The analysis of the complete coding sequences showed no differences. Additionally, the expression level was very similar. Therefore, Tr2-11 was excluded as a candidate for the Cat3 mutation. Surprisingly, the obtained sequences exhibited significant alterations to the murine Tr2-11 sequence reported previously (Lee et al., Genomics 30, 1995, 46-52). The differences in the DNA sequence predict remarkable secondary and tertiary structure alterations of the corresponding protein, The structure model of the new Tr2-11 protein is very similar to related receptors.
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