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. 1998 Jan;379(1):83-5.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Catalase / genetics*
  • Cataract / genetics*
  • Cloning, Molecular
  • Mice
  • Molecular Sequence Data
  • Nuclear Receptor Subfamily 2, Group C, Member 1
  • Polymorphism, Genetic / genetics*
  • Protein Structure, Secondary
  • Protein Structure, Tertiary
  • Receptors, Thyroid Hormone / chemistry*
  • Receptors, Thyroid Hormone / genetics
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid

Substances

  • Nr2c1 protein, mouse
  • Nuclear Receptor Subfamily 2, Group C, Member 1
  • Receptors, Thyroid Hormone
  • Catalase

Associated data

  • GENBANK/Y11436