Figures
Dual pathways of pathogenicity elicited by a common triplet repeat expansion disease.
An intronic CTG triplet repeat expansion in the transcription factor gene TCF4 frequently underlies a common age-related corneal disease called Fuchs endothelial corneal dystrophy (FECD). This image depicts two distinct mechanisms of downstream pathogenicity in affected corneal endothelial cells elicited by the repeat: TCF4 isoform dysregulation on the left as visualized via RNAScope staining (white puncta), and toxic repeat-containing RNA foci on the right visualized via fluorescence in situ hybridization (red foci). See Bhattacharyya et al. Download May’s cover page.
Image Credit: Nihar Bhattacharyya
Citation: (2024) PLoS Genetics Issue Image | Vol. 20(5) June 2024. PLoS Genet 20(5): ev20.i05. https://doi.org/10.1371/image.pgen.v20.i05
Published: June 3, 2024
Copyright: © 2024 . This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
An intronic CTG triplet repeat expansion in the transcription factor gene TCF4 frequently underlies a common age-related corneal disease called Fuchs endothelial corneal dystrophy (FECD). This image depicts two distinct mechanisms of downstream pathogenicity in affected corneal endothelial cells elicited by the repeat: TCF4 isoform dysregulation on the left as visualized via RNAScope staining (white puncta), and toxic repeat-containing RNA foci on the right visualized via fluorescence in situ hybridization (red foci). See Bhattacharyya et al. Download May’s cover page.
Image Credit: Nihar Bhattacharyya