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Human photoreceptor cells from different macular subregions have distinct transcriptional profiles
Journal article   Open access   Peer reviewed

Human photoreceptor cells from different macular subregions have distinct transcriptional profiles

Andrew P Voigt, Nathaniel K Mullin, S Scott Whitmore, Adam P DeLuca, Erin R Burnight, Xiuying Liu, Budd A Tucker, Todd E Scheetz, Edwin M Stone and Robert F Mullins
Human molecular genetics, Vol.30(16), pp.1543-1558
05/20/2021
DOI: 10.1093/hmg/ddab140
PMID: 34014299
url
https://doi.org/10.1093/hmg/ddab140View
Published (Version of record) Open Access

Abstract

Abstract The human neural retina is a light sensitive tissue with remarkable spatial and cellular organization. Compared to the periphery, the central retina contains more densely packed cone photoreceptor cells with unique morphologies and synaptic wiring. Some regions of the central retina exhibit selective degeneration or preservation in response to retinal disease and the basis for this variation is unknown. In this study, we used both bulk and single-cell RNA sequencing to compare gene expression within concentric regions of the central retina. We identified unique gene expression patterns of foveal cone photoreceptor cells, including many foveal-enriched transcription factors. In addition, we found that the genes RORB1, PPFIA1, and KCNAB2 are differentially spliced in the foveal, parafoveal, and macular regions. These results provide a highly detailed spatial characterization of the retinal transcriptome and highlight unique molecular features of different retinal regions.

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