For many genes, proper gene expression requires coordinated and dynamic interactions between multiple regulatory elements, each of which can either promote or silence transcription. In Drosophila, the complexity of the regulatory landscape is further complicated by the tight physical pairing of homologous chromosomes, which can permit regulatory elements to interact in trans, a phenomenon known as transvection. To better understand how gene expression can be programmed through cis- and trans-regulatory interactions, we analyzed transvection effects for a collection of alleles of the eyes absent (eya) gene. We find that trans-activation of a promoter by the eya eye-specific enhancers is broadly supported in many allelic backgrounds, and that the availability of an enhancer to act in trans can be predicted based on the molecular lesion of an eya allele. Furthermore, by manipulating promoter availability in cis and in trans, we demonstrate that the eye-specific enhancers of eya show plasticity in their promoter preference between two different transcriptional start sites, which depends on promoter competition between the two potential targets. Finally, we show that certain alleles of eya demonstrate pairing-sensitive silencing resulting from trans-interactions between Polycomb Response Elements (PREs), and genetic and genomic data support a general role for PcG proteins in mediating transcriptional silencing at eya. Overall, our data highlight how eya gene regulation relies upon a complex but plastic interplay between multiple enhancers, promoters, and PREs.
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http://dx.doi.org/10.1371/journal.pgen.1008152 | DOI Listing |
Klin Monbl Augenheilkd
January 2025
Department of Ophthalmology, University Hospital Tübingen, Germany.
Purpose: The study aimed to assess the reliability of tele-education in training a Malawian ophthalmology resident to interpret optical coherence tomography (OCT) images of patients with macular conditions.
Methods: This was a retrospective analysis of 1000 macula-centered OCT image series from 1000 eyes of 1000 consecutive patients from Malawi, which involved initial interpretation by a German retina specialist (observer 1) (T). Observer 1 then trained a Malawian resident (observer 2) via email, and observer 2 independently interpreted images at T, followed by face-to-face training in Malawi and reinterpretation at T and T (3-month intervals).
Vision (Basel)
January 2025
Sztárai Institute, University of Tokaj, 3950 Sárospatak, Hungary.
Retinitis pigmentosa (RP) encompasses inherited retinal dystrophies, appearing either as an isolated eye condition or as part of a broader systemic syndrome, known as syndromic RP. In these cases, RP includes systemic symptoms impacting other organs, complicating diagnosis and management. This review highlights key systemic syndromes linked with RP, such as Usher, Bardet-Biedl, and Alström syndromes, focusing on genetic mutations, inheritance, and clinical symptoms.
View Article and Find Full Text PDFCurr Eye Res
January 2025
Department of Ophthalmology, University Medical Center Goettingen, Goettingen, Germany.
Purpose: To validate the quantification of the prominent middle limiting membrane (PMLM) sign, a marker of mild-to-moderate acute ischemic damage on optical coherence tomography (OCT), by measuring middle limiting membrane (MLM) reflectivity in patients with central retinal vein occlusion (CRVO) and to investigate the prognostic impact of this measure.
Methods: Spectral Domain (SD)-OCT B-scans of 30 patients with CRVO, either sole CRVO or combined central retinal artery and vein occlusion (CCRAVO), were analyzed retrospectively and graded as PMLM present or absent. Normalized MLM reflectivity was calculated as a ratio of the maximum reflectivity within a MLM target layer and the average reflectivity of the retinal pigment epithelium (RPE).
Drugs
January 2025
Moorfields Eye Hospital, 162 City Road, London, EC1V 2PD, UK.
Neurotrophic keratitis is a rare eye condition characterised by reduced or absent corneal sensation. This leads to impaired corneal healing through a loss of protective mechanisms such as blinking. The cornea becomes vulnerable to persistent epithelial defects, ulceration, infection and ultimately, vision loss or loss of the eye.
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
January 2025
Vitreous Retina Macula Consultants of New York, New York, United States.
Purpose: The purpose of this study was to develop ground-truth histology about contributors to variable fundus autofluorescence (FAF) signal and thus inform patient selection for treating geographic atrophy (GA) in age-related macular degeneration (AMD).
Methods: One woman with bilateral multifocal GA, foveal sparing, and thick choroids underwent 535 to 580 nm excitation FAF in 6 clinic visits (11 to 6 years before death). The left eye was preserved 5 hours after death.
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