Article
The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities.
The Journal of biological chemistry - 7 Aug 1998
Amendt B A, Sutherland L B, Semina E V, Russo A F
Abstract excerpt
Rieger syndrome is an autosomal-dominant developmental disorder that includes glaucoma and mild craniofacial dysmorphism in humans. Mutations in the Pitx2 homeobox gene have been linked to Rieger syndrome. We have characterized wild type and mutant Pitx2 activities using electrophoretic mobility...
Topics
- Amino Acid Sequence
- Animals
- Binding Sites
- COS Cells
- DNA-Binding Proteins
- Genes, Reporter
- Genetic Diseases, Inborn
- Homeodomain Proteins
- Humans
- Molecular Sequence Data
- Mutation
- Nuclear Proteins
- Oligodeoxyribonucleotides
- Paired Box Transcription Factors
- Protein Binding
- Transcription Factor Pit-1
- Transcription Factors
- Transcriptional Activation