Deciphering the Structure and Function of Als2cr4 in the Mouse Retina

Zuniga, Freddi I.; Craft, Cheryl M.

doi:10.1167/iovs.10-5251

Cited by 13 publications

(15 citation statements)

References 48 publications

(40 reference statements)

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“…, 2010 ) at 1.5 μg/ml, rabbit anti-Ofd1 ( Singla et al. , 2010 ) at 1:1000, rabbit anti-Sdccag8 (13471-1-AP; Proteintech, Chicago, IL) at 1:500, rabbit anti-Smoothened (ab38686; Abcam) at 1:1000, and rabbit anti-Tmem237 ( Zuniga and Craft, 2010 ) at 1:500. For Western blots, the following antibodies were used: mouse anti–α-tubulin (DM1α; Sigma-Aldrich) at 1:10,000 and rabbit anti-Ahi1 (22045-1-AP; Proteintech) at 1:500.…”

Section: Methodsmentioning

confidence: 99%

Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole–cilium interface and facilitates proper cilium formation and function

Lee

Sante

Comerci

et al. 2014

MBoC

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Section: Methodsmentioning

confidence: 99%

Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole–cilium interface and facilitates proper cilium formation and function

Lee

Sante

Comerci

et al. 2014

MBoC

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“…The cytoskeleton has been implicated in many aspects of vision ranging from structural maintenance of photoreceptors to protein trafficking between the inner segment and outer segment and for active transport in the connecting cilium [40]. Narimatsu et al [41] demonstrated that light exposure to the mice caused disruption of the actin cytoskeleton of RPE via oxidative stress.…”

Section: Discussionmentioning

confidence: 99%

UV-induced retinal proteome changes in the rat model of age-related macular degeneration

Pavelić

Klobučar

Sedić

et al. 2015

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

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Age-related macular degeneration (AMD) is characterized by irreversible damage of photoreceptors in the central posterior part of the retina, called the macula and is the most common cause of vision loss in those aged over 50. A growing body of evidence shows that cumulative long-term exposure to UV radiation may be harmful to the retina and possibly leads to AMD irrespective of age. In spite of many research efforts, cellular and molecular mechanisms leading to UV-induced retinal damage and possibly retinal diseases such as AMD are not completely understood. In the present study we explored damage mechanisms accounting for UV-induced retinal phototoxicity in the rats exposed to UVA and UVB irradiation using a proteomics approach. Our study showed that UV irradiation induces profound changes in the retinal proteomes of the rats associated with the disruption of energy homeostasis, oxidative stress, DNA damage response and structural and functional impairments of the interphotoreceptor matrix components and their cell surface receptors such as galectins. Two small leucine-rich proteoglycans, biglycan and lumican, were identified as phototoxicity biomarkers associated with UV-induced disruption of interphotoreceptor matrix (IPM). In addition, UVB induced activation of Src kinase, which could account for cytoskeletal rearrangements in the retina was observed at the proteomics level. Pharmacological intervention either to target Src kinase with the aim of preventing cytoskeletal rearrangements in the retinal pigment epithelium (RPE) and neuronal retina or to help rebuild damaged IPM may provide fresh avenues of treatment for patients suffering from AMD.

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“…TMEM237 is part of the ciliary transition zone complex and mutations underlie cases of Joubert syndrome related disorders, which are ciliopathies with associated vision defects. 63,64 Aside from a proposed role controlling protein movement in and out of the outer segment as part of the ciliary gate, TMEM237 is also expressed in rod outer segments 64 and therefore may influence photoreceptor morphology in multiple ways.…”

Section: Müller Glia and Rpementioning

confidence: 99%

Abnormal Cone and Rod Photoreceptor Morphogenesis in gdf6a Mutant Zebrafish

Nadolski

Balay

Wong

et al. 2020

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. Analysis of photoreceptor morphology and gene expression in mispatterned eyes of zebrafish growth differentiation factor 6a (gdf6a) mutants. METHODS. Rod and cone photoreceptors were compared between gdf6a mutant and control zebrafish from larval to late adult stages using transgenic labels, immunofluorescence, and confocal microscopy, as well as by transmission electron microscopy. To compare transcriptomes between larval gdf6a mutant and control zebrafish, RNA-Seq was performed on isolated eyes. RESULTS. Although rod and cone photoreceptors differentiate in gdf6a mutant zebrafish, the cells display aberrant growth and morphology. The cone outer segments, the lightdetecting sensory endings, are reduced in size in the mutant larvae and fail to recover to control size at subsequent stages. In contrast, rods form temporarily expanded outer segments. The inner segments, which generate the required energy and proteins for the outer segments, are shortened in both rods and cones at all stages. RNA-Seq analysis provides a set of misregulated genes associated with the observed abnormal photoreceptor morphogenesis. CONCLUSIONS. GDF6 mutations were previously identified in patients with Leber congenital amaurosis. Here, we reveal a unique photoreceptor phenotype in the gdf6a mutant zebrafish whereby rods and cones undergo abnormal maturation distinct for each cell type. Further, subsequent development shows partial recovery of cell morphology and maintenance of the photoreceptor layer. By conducting a transcriptomic analysis of the gdf6a larval eyes, we identified a collection of genes that are candidate regulators of photoreceptor size and morphology.

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Deciphering the Structure and Function of Als2cr4 in the Mouse Retina

Cited by 13 publications

References 48 publications

Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole–cilium interface and facilitates proper cilium formation and function

Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole–cilium interface and facilitates proper cilium formation and function

UV-induced retinal proteome changes in the rat model of age-related macular degeneration

Abnormal Cone and Rod Photoreceptor Morphogenesis in gdf6a Mutant Zebrafish

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