PUBLICATION
Knock-Down DHDDS Expression Induces Photoreceptor Degeneration in Zebrafish
- Authors
- Wen, R., Dallman, J.E., Li, Y., Züchner, S.L., Vance, J.M., Peričak-Vance, M.A., Lam, B.L.
- ID
- ZDB-PUB-140513-283
- Date
- 2014
- Source
- Advances in experimental medicine and biology 801: 543-50 (Chapter)
- Registered Authors
- Dallman, Julia
- Keywords
- none
- MeSH Terms
-
- Alkyl and Aryl Transferases/genetics*
- Alkyl and Aryl Transferases/metabolism
- Animals
- Disease Models, Animal*
- Gene Knockdown Techniques
- Introns/genetics
- Retinal Degeneration/genetics*
- Retinal Degeneration/metabolism
- Retinal Degeneration/pathology
- Retinal Photoreceptor Cell Outer Segment/metabolism
- Retinal Photoreceptor Cell Outer Segment/pathology
- Retinal Photoreceptor Cell Outer Segment/physiology*
- Zebrafish/genetics*
- Zebrafish Proteins/genetics*
- Zebrafish Proteins/metabolism
- PubMed
- 24664742 Full text @ Adv. Exp. Med. Biol.
Citation
Wen, R., Dallman, J.E., Li, Y., Züchner, S.L., Vance, J.M., Peričak-Vance, M.A., Lam, B.L. (2014) Knock-Down DHDDS Expression Induces Photoreceptor Degeneration in Zebrafish. Advances in experimental medicine and biology. 801:543-50.
Abstract
A mutation in the dehydrodolichol diphosphate synthase (DHDDS) was recently identified as the cause of a subtype of recessive retinitis pigmentosa (RP). Molecular modeling indicates that this mutation could result in low enzymatic efficiency of DHDDS. To investigate the possible link between insufficient DHDDS activity and photoreceptor degeneration, the expression of DHDDS was knocked down by morpholino oligonucleotides (MO) injected into zebrafish one cell embryos. The general appearance and behavior of 4-day-old MO-injected fish were normal, but they failed to respond to light-off, suggesting loss of visual function. Morphological analysis showed that photoreceptor outer segments in retinas of MO-injected fish are very short and in many cases completely missing. Peanut agglutinin (PNA) staining confirmed the absence of cone outer segments. These results demonstrate that suppression of DHDDS expression in zebrafish leads to the loss of photoreceptor outer segments and visual function. These results support the hypothesis that insufficient DHDDS function leads to retinal degeneration.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping