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Disruption in murine Eml1 perturbs retinal lamination during early development
G B Collin1, J Won1, M P Krebs1
1The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, 04609, USA.
Scientific Reports
|March 30, 2020
Summary
The Eml1 gene is crucial for proper neural development and cell positioning in the mammalian brain and retina. Disruption leads to severe lamination defects, impacting neuronal function and tissue architecture.
Area of Science:
- Neuroscience
- Developmental Biology
- Genetics
Background:
- Proper neuronal migration and positioning (lamination) are essential for functional neural networks in the central nervous system.
- The molecular mechanisms governing retinal and cerebrocortical lamination are not fully understood.
- Defects in lamination can result in mispositioned neurons, disrupted connections, and abnormal function.
Purpose of the Study:
- To investigate the role of the Eml1 gene in mammalian neural development, specifically focusing on retinal lamination.
- To characterize the phenotype of a novel murine model (tvrm360) with a mutation in the Eml1 gene.
Main Methods:
- Generation and analysis of a novel murine model (tvrm360) with a nonsense mutation in the Eml1 gene.
- Histological examination of retinal and cerebrocortical tissues during development.
- Assessment of neuronal positioning, cell morphology, and differentiation.
Main Results:
- The Eml1 mutation in tvrm360 mice caused subcortical heterotopia, hydrocephalus, and retinal disorganization.
- Eml1 disruption led to abnormal positioning of photoreceptor cell nuclei and Müller cell bodies in the retina.
- While ectopic photoreceptors formed cilia and synapses, they failed to develop outer segments, indicating a late differentiation defect.
- Mitotic nuclei in the retinal neuroepithelium showed basal displacement, suggesting an early defect in progenitor cell positioning.
Conclusions:
- EML1 plays a critical role in early eye development, particularly in retinal progenitor cell positioning and proliferation.
- Proper retinal lamination during development is dependent on EML1 function.
- EML1 is essential for establishing normal retinal architecture and neuronal positioning, with implications for understanding neurodevelopmental disorders.
