PUBLICATION
Regional Gene Expression Profile Comparison Reveals the Unique Transcriptome of the Optic Fissure
- Authors
- Cao, M., Ouyang, J., Liang, H., Guo, J., Lin, S., Yang, S., Xie, T., Chen, S.
- ID
- ZDB-PUB-181207-29
- Date
- 2018
- Source
- Investigative ophthalmology & visual science 59: 5773-5784 (Journal)
- Registered Authors
- Cao, Mengxi
- Keywords
- none
- MeSH Terms
-
- Adaptor Proteins, Signal Transducing/genetics*
- Animals
- Embryo, Nonmammalian/metabolism*
- Female
- Gene Expression Profiling
- Gene Expression Regulation, Developmental/physiology*
- In Situ Hybridization
- Male
- Mice
- Mice, Inbred C57BL
- Microarray Analysis
- Microfilament Proteins/genetics*
- Morpholinos/pharmacology
- Optic Disk/embryology*
- Optic Disk/metabolism
- PAX2 Transcription Factor/genetics*
- Plasmids
- RNA/genetics
- Real-Time Polymerase Chain Reaction
- Retina/embryology
- Transcriptome/genetics*
- Zebrafish/embryology
- Zebrafish Proteins/genetics*
- PubMed
- 30521666 Full text @ Invest. Ophthalmol. Vis. Sci.
Citation
Cao, M., Ouyang, J., Liang, H., Guo, J., Lin, S., Yang, S., Xie, T., Chen, S. (2018) Regional Gene Expression Profile Comparison Reveals the Unique Transcriptome of the Optic Fissure. Investigative ophthalmology & visual science. 59:5773-5784.
Abstract
Purpose The optic fissure (OF) is a transient opening in the ventral optic cup (OC) that acts as a passage for blood vessels and retinal ganglion cell axons during early eye development. Failure to close the OF is the developmental basis for uveal coloboma, a congenital blinding eye disease that significantly contributes to childhood blindness. Genes specifically expressed in the OF region may play important roles in OF development and function. The aim of this study was to characterize the transcriptome of OC cells in the OF region and investigate the function of OF-specific genes during OF closure.
Methods Laser-assisted microdissection was used to collect different regions of OC tissues. Microarray analysis was used to obtain and compare gene expression profiles of different OC regions. RNA in situ hybridization (ISH) was used to further characterize OF-specific gene expression patterns. Morpholino knockdown in zebrafish was used to study the function of a newly discovered OF-specific gene during OF closure.
Results Microarray comparison revealed that the OC at the OF region exhibited a unique gene expression profile. OC expression patterns of a number of newly discovered OF-specific genes were confirmed by ISH. Morpholino knockdown and downstream target expression and function analysis demonstrated that afap1l2, a newly discovered OF-specific gene, controls OF closure by regulating pax2a expression.
Conclusions Our study characterized the unique transcriptome of the OF region of the OC and demonstrated the essential role of a newly discovered OF-specific gene in OF closure. This study provides a valuable foundation for future mechanism dissection in OF development and physiology, and for human coloboma etiology exploration.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping