Article
Analysis of the mechanism of action of non-deletion hereditary persistence of fetal hemoglobin mutants in transgenic mice.
The EMBO journal - 15 Jan 2001
Li Q, Duan Z J, Stamatoyannopoulos G
Abstract excerpt
Transgenic mice carrying an (A)gamma gene construct containing a -382 5' truncation of the (A)gamma gene promoter have a phenotype of hereditary persistence of fetal hemoglobin (HPFH) but, when the CACCC box of the -382(A)gamma promoter is deleted, there is no gamma gene expression in the adult mice. We used this system to investigate the mechanism whereby human HPFH mutations result in gamma gene expression in...
Topics
- Animals
- Base Sequence
- Embryo, Mammalian
- Erythropoiesis
- Fetal Hemoglobin
- Globins
- Hemoglobinopathies
- Humans
- Mice
- Mice, Transgenic
- Models, Animal
- Phenotype
- Point Mutation
- Promoter Regions, Genetic
- Sequence Deletion
