Article
Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration.
Proceedings of the National Academy of Sciences of the United States of America - 11 Apr 1995
Li T, Franson W K, Gordon J W, Berson E L, Dryja T P
Abstract excerpt
The missense mutation Lys-296-->Glu (K296E) in the rhodopsin gene produces an opsin with no chromophore binding site and therefore is not activated by light. Nevertheless, the mutant opsin constitutively activates transducin in vitro and causes photoreceptor degeneration in vivo, possibly by continuously activating the phototransduction cascade, analogous to constant exposure to environmental light. We studied...
Topics
- Animals
- Antigens
- Arrestin
- Base Sequence
- Darkness
- Electroretinography
- Enzyme Activation
- Eye Proteins
- Immunohistochemistry
- Mice
- Mice, Transgenic