title: Polymorphism in the murine Tr2-11 gene encoding an orphan receptor, and its exclusion as a candidate gene for the cataract mutation Cat3.
abstract: 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)F1 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.
authors.affiliation: GSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Immervoll
authors.forename: J
authors.initials: J
authors.lastname: Adamski
authors.forename: J
authors.initials: J
authors.lastname: Graw
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002374:Catalase / Q000235:genetics*; D002386:Cataract / Q000235:genetics*; D003001:Cloning, Molecular; D051379:Mice; D008969:Molecular Sequence Data; D057107:Nuclear Receptor Subfamily 2, Group C, Member 1; D011110:Polymorphism, Genetic / Q000235:genetics*; D017433:Protein Structure, Secondary; D017434:Protein Structure, Tertiary; D011988:Receptors, Thyroid Hormone / Q000737:chemistry* / Q000235:genetics; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid
chemical_list: C539823:Nr2c1 protein, mouse; D057107:Nuclear Receptor Subfamily 2, Group C, Member 1; D011988:Receptors, Thyroid Hormone; D002374:Catalase