Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.5
2.8
Journals
Genes
Special Issues
Genetics and Genomics of Retinal Development and Diseases
share announcement

Genetics and Genomics of Retinal Development and Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (25 August 2025) | Viewed by 1016

Special Issue Editor

Dr. Jiaxiong Lu

E-Mail Website
Guest Editor
Gavin Herbert Eye Institute, Center for Translational Vision Research, Department of Ophthalmology, University of California Irvine School of Medicine, Irvine, CA 92697, USA
Interests: development; IRD; genetic models; retina; disease genetics and genomics

Special Issue Information

Dear Colleagues,

Retinal development and function are governed by complex genetic and genomic mechanisms, and disruptions to these processes can result in severe visual impairment and blindness. Advances in genetics and genomics have greatly enhanced our understanding of retinal biology, leading to new diagnostic and therapeutic approaches to retinal diseases.

Exploring the genetic variants associated with the onset of retinal diseases, developing retinal model systems, identifying essential genes and genetic networks, and applying CRISPR-based genome editing are all crucial in advancing this field.

To further our knowledge in this field, we invite experts to contribute research papers and critical reviews that address these key areas.

Dr. Jiaxiong Lu
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • inherited retinal diseases
  • retina organoids
  • genetic networks
  • retina
  • CRISPR-based genome editing

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

12 pages, 1929 KB  
Article
Retinoic Acid-Regulated Epigenetic Marks Identify Alx1 as a Direct Target Gene Required for Optic Cup Formation
by Marie Berenguer and Gregg Duester
Genes 2025, 16(9), 1071; https://doi.org/10.3390/genes16091071 - 11 Sep 2025
Viewed by 243
Abstract
Background/Objectives: Retinoic acid (RA) is a transcriptional control agent that regulates several aspects of eye development including invagination of the optic vesicle to form the optic cup, although a target gene for this role has not been previously identified. As loss of RA [...] Read more.
Background/Objectives: Retinoic acid (RA) is a transcriptional control agent that regulates several aspects of eye development including invagination of the optic vesicle to form the optic cup, although a target gene for this role has not been previously identified. As loss of RA synthesis in Rdh10 knockout embryos affects the expression levels of thousands of genes, a different approach is needed to identify genes that are directly regulated by RA. Methods: Here, we combined ChIP-seq for the H3K27ac epigenetic mark with RNA-seq on optic field tissue from E10 wild-type and Rdh10−/− embryos that exhibit failure in optic cup formation. Results: We identified a small number of genes with decreased expression when RA is absent that also have a decreased presence of a nearby epigenetic gene activation mark (H3K27ac). One such gene was Alx1 that also has an RA response element (RARE) located near the RA-regulated H3K27ac mark, providing evidence that RA directly activates Alx1. In situ hybridization studies showed that Rdh10−/− embryos exhibit a large decrease of Alx1 expression in the optic field. CRISPR/Cas9 knockout of Alx1 resulted in a defect in optic cup formation due to a failure of perioptic mesenchyme to migrate and separate the optic cup epithelium from the forebrain neuroepithelium. Conclusions: Our studies support a model in which RA functions to directly activate Alx1 in perioptic mesenchyme to stimulate an early stage of eye development during which the optic vesicle folds into an optic cup that forms the retina. Full article
(This article belongs to the Special Issue Genetics and Genomics of Retinal Development and Diseases)
►▼ Show Figures

Graphical abstract

21 pages, 11256 KB  
Article
Teashirt and C-Terminal Binding Protein Interact to Regulate Drosophila Eye Development
by Surya Jyoti Banerjee, Jennifer Curtiss, Chase Drucker and Harley Hines
Genes 2025, 16(9), 1045; https://doi.org/10.3390/genes16091045 - 5 Sep 2025
Viewed by 490
Abstract
Background and Objectives: The Drosophila retinal determination network comprises the transcription factor Teashirt (Tsh) and the transcription co-regulator C-terminal Binding Protein (CtBP), both of which are essential for normal adult eye development. Both Tsh and CtBP show a pattern of co-expression in [...] Read more.
Background and Objectives: The Drosophila retinal determination network comprises the transcription factor Teashirt (Tsh) and the transcription co-regulator C-terminal Binding Protein (CtBP), both of which are essential for normal adult eye development. Both Tsh and CtBP show a pattern of co-expression in the proliferating cells anterior to the morphogenetic furrow that demarcates the boundary between the anteriorly placed proliferating eye precursor cells and the posteriorly placed differentiating photoreceptor cells in the larval eye-precursor tissue, the eye–antennal disc. The disc ultimately develops into the adult compound eyes, antenna, and other head structures. Both Tsh and CtBP were found to interact genetically during ectopic eye formation in Drosophila, and both were present in molecular complexes purified from gut and cultured cells. However, it remained unknown whether Tsh and CtBP molecules could interact in the eye–antennal discs and elicit an effect on eye development. The present study answers these questions. Methods: 5′ GFP-tagging of the tsh gene in the Drosophila genome and 5′ FLAG-tagging of the ctbp gene were accomplished by the CRISPR-Cas9 and BAC recombineering methods, respectively, to produce GFP-Tsh- and FLAG-CtBP-fused proteins in specific transgenic Drosophila strains. Verification of these proteins’ expression in the larval eye–antennal discs was performed by immunohistological staining and confocal microscopy. Genetic screening was performed to establish functional interaction between Tsh and CtBP during eye development. Scanning Electron Microscopy was performed to image the adult eye structure. Co-immunoprecipitation and GST pulldown assays were performed to show that Tsh and CtBP interact in the cells of the third instar eye–antennal discs. Results: This study reveals that Tsh and CtBP interact genetically and physically in the Drosophila third instar larval eye–antennal disc to regulate adult eye development. This interaction is likely to limit the population of the eye precursor cells in the larval eye disc of Drosophila. Conclusions: The relative abundance of Tsh and CtBP in the third instar larval eye–antennal disc can dictate the outcome of their interaction on the Drosophila eye formation. Full article
(This article belongs to the Special Issue Genetics and Genomics of Retinal Development and Diseases)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-2
Back to TopTop