Article
Sex-reversing mutations affect the architecture of SRY-DNA complexes.
The EMBO journal - 15 Dec 1994
Pontiggia A, Rimini R, Harley V R, Goodfellow P N, Lovell-Badge R, Bianchi M E
Abstract excerpt
The testis determining factor, SRY, is a DNA binding protein that causes a large distortion of its DNA target sites. We have analysed the biochemical properties of the DNA binding domains (HMG-boxes) of mutant SRY proteins from five patients with complete gonadal dysgenesis. The mutant proteins fall into three categories: two bind and bend DNA almost normally, two bind inefficiently but bend DNA normally and one...
Topics
- Base Sequence
- Binding Sites
- DNA
- DNA-Binding Proteins
- Enhancer Elements, Genetic
- Female
- Gonadal Dysgenesis
- High Mobility Group Proteins
- Humans
- Male
- Models, Genetic