The zebrafish eye—a paradigm for investigating human ocular genetics

Richardson, Rose; Tracey‐White, Dhani; Webster, Andrew R.; Moosajee, Mariya

doi:10.1038/eye.2016.198

Cited by 147 publications

(179 citation statements)

References 107 publications

(123 reference statements)

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“…In some non-mammalian vertebrates, specifically zebrafish, cavefish, and possibly Xenopus, a lens vesicle does not form during eye development. 59,60 Instead the lens placode continues to thicken forming a lens mass and eventually delaminates from the surface ectoderm 59,60 uring development of the anterior segment of the eye, cells from the neural crest mesenchyme migrate between the lens and the corneal epithelium. These cells differentiate into the corneal endothelium, iris and ciliary body.…”

Section: Lens Developmentmentioning

confidence: 99%

The Development, Growth, and Regeneration of the Crystalline Lens: A Review

Kumar

Reilly

2019

Current Eye Research

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Purpose: This review aims to provide an understanding of the history of research on, the biological processes governing the different forms of, and an overview of more recent work on lens regeneration as they will likely prove vital in bringing the study of lens regeneration into the clinic. Methods: A review of the literature on lens regeneration research was conducted. Results: Lens regeneration is characterized by the regrowth or repair of the lens following the removal of either a portion or of the entire lens. A brief history of research on lens regeneration is provided, from the discovery in early antiquity of the ability of some animals to regenerate lost tissue, to the systematic cataloguing of the mechanisms of lens regeneration in the 19th century, until the more modern unraveling of the genetic and biochemical processes governing lens regeneration. The anatomy and physiology of the lens as well as the mechanisms by which the lens develops inform its regenerative capabilities by determining the processes that must occur in order to regrow a new lens or repair a damaged one. Lens regeneration occurs by one of several species-dependent methods: some amphibians can regrow a new lens after complete removal of the old one while some mammals can only repair a damaged lens. This review provides an overview of the mechanisms controlling the different types of lens regeneration. Conclusion: The development and growth of the intact lens influence the mechanisms that govern lens regeneration. Recent advances in the field have begun to apply concepts of the field in the clinic and have made significant progress towards realizing the goal of using lens regeneration to repair a damaged lens in the clinic.

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Section: Lens Developmentmentioning

confidence: 99%

The Development, Growth, and Regeneration of the Crystalline Lens: A Review

Kumar

Reilly

2019

Current Eye Research

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“…The zebrafish embryo is a useful experimental model to study both skin and eye pigmentation as well as early eye development. Models for OCA1 and OCA3 have been described 39–45 . Although dct expression pattern in zebrafish embryo has been used as a molecular marker of pigmented cells 44,46 , its knock-down has not been previously described.…”

Section: Discussionmentioning

confidence: 99%

Dopachrome tautomerase variants in patients with oculocutaneous albinism

Pennamen

Tingaud‐Sequeira

Gažová

et al. 2020

Preprint

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PurposeAlbinism is a clinically and genetically heterogeneous condition. Despite analysis of the nineteen known genes, ∼30% patients remain unsolved. We aimed to identify new genes involved in albinism.MethodsWe sequenced a panel of genes with known or predicted involvement in melanogenesis in 230 unsolved albinism patients.ResultsWe identified variants in the Dopachrome tautomerase (DCT) gene in two patients. One was compound heterozygous for a 14 bp deletion in exon 9 and c.118T>A p.(Cys40Ser). The second was homozygous for c.183C>G p.(Cys61Trp). Both patients had mild hair and skin hypopigmentation, and classical ocular features. CRISPR/Cas9 was used in C57BL/6J mice to create mutations identical to the missense mutations carried by the patients, along with one loss-of-function indel mutation. When bred to homozygosity the three mutations revealed hypopigmentation of the coat, milder for Cys40Ser compared to Cys61Trp or the frameshift mutation. Histological analysis identified significant hypopigmentation of the retinal pigmented epithelium (RPE) indicating that defective RPE melanogenesis could be associated with eye and vision defects. DCT loss of function in zebrafish embryos elicited hypopigmentation both in melanocytes and RPE cells.ConclusionsDCT is the gene for a new type of oculocutaneous albinism that we propose to name OCA8.

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“…[50] CRISPR-Cas genome editing has previously been applied to zebrafish. [20] Yin et al used retina tissue-specific delivery (injection and electroporation) of sgRNA targeted to the zebrafish retinal regeneration gene Ascl1a in a strain background constitutively expressing SpCas9.…”

Section: Advances In Ocular Genetics Using Crispr-cas Genome Editing mentioning

confidence: 99%

CRISPR applications in ophthalmologic genome surgery

Cabral

DiCarlo

Justus

et al. 2017

Current Opinion in Ophthalmology

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Purpose of review This review seeks to summarize and discuss the application of CRISPR-Cas systems for genome editing, also called “genome surgery,” in the field of ophthalmology. Recent findings Precision medicine is an emerging approach for disease treatment and prevention that takes into account the variability of an individual’s genetic sequence. Various groups have used CRISPR-Cas genome editing to make significant progress in mammalian preclinical models of eye disease, the basic science of eye development in zebrafish, the in vivo modification of ocular tissue, as well as the correction of stem cells with therapeutic applications. Additionally, investigators have creatively used the targeted mutagenic potential of CRISPR-Cas systems to target pathogenic alleles in vitro. Summary Over the past year, CRISPR-Cas genome editing has been used to correct pathogenic mutations in vivo as well as in transplantable stem cells. While off-target mutagenesis remains a concern, improvement in CRISPR-Cas technology and careful screening for undesired mutations will likely lead to clinical eye therapeutics employing CRISPR-Cas systems in the near future.

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The zebrafish eye—a paradigm for investigating human ocular genetics

Cited by 147 publications

References 107 publications

The Development, Growth, and Regeneration of the Crystalline Lens: A Review

The Development, Growth, and Regeneration of the Crystalline Lens: A Review

Dopachrome tautomerase variants in patients with oculocutaneous albinism

CRISPR applications in ophthalmologic genome surgery

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