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Promfusion: a synthetic fusion promoter enabling enhanced and balanced photoreceptor transgene expression

Tran, S.; Trinquier, J.; Van Meter, T.; Zin, E. A.; Nanteau, C.; Riancho, L.; Potey, A.; Slembrouck-Brec, A.; Delmas, M.; Ferrari, U.; Goureau, O.; Dalkara, D.

2026-06-09 genetics
10.64898/2026.06.05.730342 bioRxiv
Show abstract

Achieving efficient and balanced transgene expression in both rods and cones remains a major challenge in retinal gene therapy. Current promoters either lack specificity or fail to provide sufficient cellular coverage and expression level. To address this limitation, we developed and evaluated two fusion promoters, Pikali and Nocchu, by combining PR1.7, a cone-specific promoter and GRK1, a promoter most active in rods. Here, we show that Pikali and Nocchu outperform their parental promoters, driving broader and more balanced GFP expression in rods and cones of human iPSC-derived retinal organoids. These constructs achieved transduction in 30% to 45% of photoreceptors, with higher expression levels than GRK1 and broader cellular coverage than PR1.7. Our findings establish Pikali and Nocchu as excellent candidates for retinal gene therapy, overcoming the limitations of existing promoters. By combining specificity, efficiency, and extensive photoreceptor targeting, these fusion constructs represent a novel and promising strategy for next-generation gene therapy vectors, addressing inherited retinal dystrophies and advancing clinical translation.

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