PUBLICATION
The Zebrafish nrc Mutant Reveals a Role for the Polyphosphoinositide Phosphatase Synaptojanin 1 in Cone Photoreceptor Ribbon Anchoring
- Authors
- Van Epps, H.A., Hayashi, M., Lucast, L., Stearns, G.W., Hurley, J.B., De Camilli, P., and Brockerhoff, S.E.
- ID
- ZDB-PUB-041008-12
- Date
- 2004
- Source
- The Journal of neuroscience : the official journal of the Society for Neuroscience 24(40): 8641-8650 (Journal)
- Registered Authors
- Brockerhoff, Susan, Hurley, James B., Van Epps, Heather
- Keywords
- ribbon synapse; synaptojanin; retina; cone photoreceptor; zebrafish; sensory neurons
- MeSH Terms
-
- Phenotype
- Retinal Cone Photoreceptor Cells/chemistry
- Retinal Cone Photoreceptor Cells/enzymology*
- Retinal Cone Photoreceptor Cells/ultrastructure*
- Nerve Tissue Proteins/genetics
- Nerve Tissue Proteins/physiology
- Mutation
- Amino Acid Sequence
- Synaptic Vesicles/ultrastructure*
- Zebrafish Proteins/antagonists & inhibitors
- Zebrafish Proteins/genetics
- Zebrafish Proteins/physiology*
- Molecular Sequence Data
- Phosphoric Monoester Hydrolases/antagonists & inhibitors
- Phosphoric Monoester Hydrolases/genetics
- Phosphoric Monoester Hydrolases/physiology*
- Actins/analysis
- Retina/anatomy & histology
- Retina/growth & development
- Animals
- Larva/anatomy & histology
- Larva/enzymology
- Zebrafish/genetics
- Zebrafish/growth & development
- Zebrafish/physiology*
- PubMed
- 15470129 Full text @ J. Neurosci.
Citation
Van Epps, H.A., Hayashi, M., Lucast, L., Stearns, G.W., Hurley, J.B., De Camilli, P., and Brockerhoff, S.E. (2004) The Zebrafish nrc Mutant Reveals a Role for the Polyphosphoinositide Phosphatase Synaptojanin 1 in Cone Photoreceptor Ribbon Anchoring. The Journal of neuroscience : the official journal of the Society for Neuroscience. 24(40):8641-8650.
Abstract
Visual, vestibular, and auditory neurons rely on ribbon synapses for rapid continuous release and recycling of synaptic vesicles. Molecular mechanisms responsible for the properties of ribbon synapses are mostly unknown. The zebrafish vision mutant nrc has unanchored ribbons and abnormal synaptic transmission at cone photoreceptor synapses. We used positional cloning to identify the nrc mutation as a premature stop codon in the synaptojanin1 (synj1) gene. Synaptojanin 1 (Synj1) is undetectable in nrc extracts, and biochemical activities associated with it are reduced. Furthermore, morpholinos directed against synj1 phenocopy the nrc mutation. Synj1 is a polyphosphoinositide phosphatase important at conventional synapses for clathrin-mediated endocytosis and actin cytoskeletal rearrangement. In the nrc cone photoreceptor pedicle, not only are ribbons unanchored, but synaptic vesicles are reduced in number, abnormally distributed, and interspersed within a dense cytoskeletal matrix. Our findings reveal a new role for Synj1 and link phosphoinositide metabolism to ribbon architecture and function at the cone photoreceptor synapse.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping