Objective: To study the development and opsin expression of zebrafish photoreceptors after CRX gene knock-down.
Methods: It was a experimental study. CRX-MOs was microinjected into the zygote of zebrafish. Seventy-two and 96 hours post fertilization, we prepared the eye histological slides, electron microscope samples and whole mount in-situ hybridizations to study the development and opsin expression. of photoreceptors.
Results: There were no obvious histological changes in optical microscope observation after CRX-MOs microinjection. Outer segments were developed in control and blank groups, but no obvious outer segment was found in CRX group by electron microscope observation. Opsin Rho, SWS1 and SWS2 were expressed in control and blank groups and the expression of these genes was obviously decreased in CRX group.
Conclusion: CRX gene can influence the development and opsins expression of photoreceptors outer segments in zebrafish.
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Hum Mol Genet
January 2025
Department of Ophthalmology, Baylor College of Medicine, 6565 Fannin St, NC205, Houston, TX 77030 United States.
Human diseases with similar phenotypes can be interconnected through shared biological pathways, genes, or molecular mechanisms. Inherited retinal diseases (IRDs) cause photoreceptor dysfunction due to mutations in approximately 300 genes, affecting visual transduction, photoreceptor morphogenesis, and transcription factors, suggesting common pathobiological mechanisms. This study examined the functional relationship between known IRDs genes by integrating binding sites and gene expression data from the key photoreceptor transcription factors (TFs), Crx and Nrl.
View Article and Find Full Text PDFCell Syst
December 2024
The Edison Family Center for Genome Sciences & Systems Biology, Saint Louis, MO 63110, USA; Department of Genetics, Saint Louis, MO 63110, USA. Electronic address:
Deep learning is a promising strategy for modeling cis-regulatory elements. However, models trained on genomic sequences often fail to explain why the same transcription factor can activate or repress transcription in different contexts. To address this limitation, we developed an active learning approach to train models that distinguish between enhancers and silencers composed of binding sites for the photoreceptor transcription factor cone-rod homeobox (CRX).
View Article and Find Full Text PDFPaired-class homeodomain transcription factors (HD TFs) play essential roles in vertebrate development, and their mutations are linked to human diseases. One unique feature of paired-class HD is cooperative dimerization on specific palindrome DNA sequences. Yet, the functional significance of HD cooperative dimerization in animal development and its dysregulation in diseases remain elusive.
View Article and Find Full Text PDFRetin Cases Brief Rep
December 2024
Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, University of California Los Angeles, David Geffen School of Medicine at UCLA, Los Angeles, California, United States.
Purpose: To report a case of hydroxychloroquine (HCQ) retinopathy after long-term exposure in a 23-year-old male.
Methods: Multimodal imaging including fundus photography, fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT), and en face OCT were performed, in addition to functional testing with full-field electroretinography (ERG) and Humphrey visual field (HVF).
Results: A 23-year-old man with a history of juvenile systemic lupus erythematosus and HCQ treatment for 13 years at a dosage of 200 mg/d (cumulative dose: 949 grams) presented to the retinal clinic (DS).
Background: Variants in CRX are associated with dominantly inherited retinopathy with considerable phenotypic variability. Many patients have central retinal degeneration; in some patients, we have observed an additional focus of degeneration in the nasal retina. This study explores this phenotypic association amongst patients with CRX-associated disease.
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