Article
A naturally occurring gamma globin gene mutation enhances SP1 binding activity.
Molecular and cellular biology - 1 Jan 1990
Sykes K, Kaufman R
Abstract excerpt
Transcription of the human fetal globin genes in erythroid cells is tightly regulated during different stages of development and differentiation. Two naturally occurring mutations 202 base pairs upstream of the duplicated gamma globin genes are associated with incorrectly regulated gamma globin gene gene expression; elevated levels of fetal globin are synthesized during adult life. A C-to-G base substitution...
Topics
- Base Sequence
- Binding Sites
- Cell Line
- DNA, Viral
- DNA-Binding Proteins
- Fetal Hemoglobin
- Gene Expression Regulation
- Globins
- Hemoglobinopathies
- Humans
- Molecular Sequence Data
- Mutation