ArticleInvestigative ophthalmology & visual science2015
A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia.
Article in Investigative ophthalmology & visual science, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 23 citations in OpenAlex.
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- Repeated nuclear translocations underlie photoreceptor positioning and lamination of the outer nuclear layer in the mammalian retina.Cell reports · 2021Article
- Functional genetic diversity in an exploited marine species and its relevance to fisheries management.Proceedings. Biological sciences · 2021Article
- Starvation to Glucose Reprograms Development of Neurovascular Unit in Embryonic Retinal Cells.Frontiers in cell and developmental biology · 2021Article
- Article
- Review
- Casz1 controls higher-order nuclear organization in rod photoreceptors.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice.Nucleus (Austin, Tex.) · 2018Article
- Effects of Subretinal Gene Transfer at Different Time Points in a Mouse Model of Retinal Degeneration.PloS one · 2016Article
- Stratified Test Accurately Identifies Differentially Expressed Genes Under Batch Effects in Single-Cell Data.IEEE/ACM transactions on computational biology and bioinformaticsArticle
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
purposeThe purpose of this study was to identify the molecular basis and characterize the pathological consequences of a spontaneous mutation named cone photoreceptor function loss 8 (cpfl8) in a mouse model with a significantly reduced cone electroretinography (ERG) response.
methodsThe chromosomal position for the recessive cpfl8 mutation was determined by DNA pooling and by subsequent genotyping with simple sequence length polymorphic markers in an F2 intercross phenotyped by ERG. Genes within the candidate region of both mutants and controls were directly sequenced and compared. The effects of the mutation were examined in longitudinal studies by light microscopy, marker analysis, transmission electron microscopy, and ERG.
resultsThe cpfl8 mutation was mapped to Chromosome 12, and a premature stop codon was identified in the spectrin repeat containing nuclear envelope 2 (Syne2) gene. The reduced cone ERG response was due to a significant reduction in cone photoreceptors. Longitudinal studies of the early postnatal retina indicated that the cone photoreceptors fail to develop properly, rod photoreceptors mislocalize to the inner nuclear layer, and both rods and cones undergo apoptosis prematurely. Moreover, we observed migration defects of secondary neurons and ectopic Müller cell bodies in the outer nuclear layer in early postnatal development.
conclusionsSYNE2 is important for normal retinal development. We have determined that not only is photoreceptor nuclear migration affected, but also the positions of Müller glia and secondary neurons are disturbed early in retinal development. The cpfl8 mouse model will serve as an important resource for further examining the role of nuclear scaffolding and migration in the developing retina.
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