PUBLICATION

Knockdown of pnpla6 protein results in motor neuron defects in zebrafish

Authors
Song, Y., Wang, M., Mao, F., Shao, M., Zhao, B., Song, Z., Shao, C., and Gong, Y.
ID
ZDB-PUB-121004-11
Date
2013
Source
Disease models & mechanisms   6(2): 404-413 (Journal)
Registered Authors
Keywords
none
MeSH Terms
  • Gene Knockdown Techniques*
  • Cells, Cultured
  • Mice
  • Morpholinos/pharmacology
  • Interneurons/drug effects
  • Interneurons/metabolism
  • Interneurons/pathology
  • Axons/metabolism
  • Axons/pathology
  • Amino Acid Sequence
  • RNA, Messenger/genetics
  • RNA, Messenger/metabolism
  • Phospholipases/chemistry
  • Phospholipases/metabolism*
  • Zebrafish/embryology
  • Zebrafish/metabolism*
  • Bone Morphogenetic Proteins/metabolism
  • Up-Regulation/drug effects
  • Mutant Proteins/genetics
  • Mutant Proteins/metabolism
  • Motor Neurons/drug effects
  • Motor Neurons/enzymology*
  • Motor Neurons/pathology*
  • Phenotype
  • Sensory Receptor Cells/drug effects
  • Sensory Receptor Cells/metabolism
  • Sensory Receptor Cells/pathology
  • Animals
  • Molecular Sequence Data
  • Signal Transduction/drug effects
  • Zebrafish Proteins/chemistry
  • Zebrafish Proteins/metabolism*
  • Embryo, Nonmammalian/drug effects
  • Embryo, Nonmammalian/enzymology
  • Embryo, Nonmammalian/pathology
  • Humans
  • Phospholipases A2, Calcium-Independent/chemistry
  • Phospholipases A2, Calcium-Independent/metabolism*
(all 38)
PubMed
22996643 Full text @ Dis. Model. Mech.
Abstract

Mutations in patatin-like phospholipase domain containing 6 (PNPLA6), also known as neuropathy target esterase (NTE), or SPG39, cause hereditary spastic paraplegia (HSP). Although studies on animal models including mice and Drosophila have extended our understanding of PNPLA6, its role in neural development and HSP is not clearly understood. Here, we generated a vertebrate model of PNPLA6 insufficiency using morpholino oligonucleotide knockdown in zebrafish (Danio rerio). PNPLA6 knockdown results in developmental abnormalities and motor neuron defects including axon truncation and branching. The phenotypes in pnpla6 knockdown morphants can be rescued by introduction of wide type (WT), but not mutant, human PNPLA6 mRNA. Our results also revealed the involvement of BMP signaling in pnpla6 knockdown phenotypes. Taken together, these results demonstrated an important role of PNPLA6 in motor neuron development and implicated overexpression of BMP signaling as the possible mechanism underlying the developmental defects in pnpla6 morphants.

Genes / Markers
Figures
Figure Gallery (7 images)
Show all Figures
Expression
Phenotype
Mutations / Transgenics
No data available
Human Disease / Model
No data available
Sequence Targeting Reagents
Target Reagent Reagent Type
pnpla6MO1-pnpla6MRPHLNO
1 - 1 of 1
Show
Fish
1 - 2 of 2
Show
Antibodies
Orthology
Gene Orthology
pnpla6
1 - 1 of 1
Show
Engineered Foreign Genes
No data available
Mapping
No data available