Specific photoreceptor cell fate pathways are differentially altered in NR2E3-associated diseases

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  1. Note: This rebuttal was posted by the corresponding author to Review Commons. Content has not been altered except for formatting.

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    Reply to the reviewers

    FULL REVISION

    The preprint of this article is uploaded in bioRxiv (doi:10.1101/2023.06.03.543550) (June 2023) and has been previously submitted and revised by peers in Review Commons. We attach the full Review, with a detailed answer to the Reviewers and a new revised version of the manuscript following the Reviewer’s comments and suggestions, adding new data, a new Supplementary figure, as well as a revision of the text and discussion. We are thankful to the reviewers for their helpful comments, which have further clarified some of aspects of our work and overall improved the quality of our manuscript.

    All the line’s numbering mentioned in the point by …

  2. Note: This preprint has been reviewed by subject experts for Review Commons. Content has not been altered except for formatting.

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    Referee #2

    Evidence, reproducibility and clarity

    Aísa-Marin et al. present a study on alterations in photoreceptor cell fate in NR2E3-associated diseases. The results convincingly reveal the presence of heterogeneous rod and cone populations in the mouse retina, as well as the existence of a novel cone pathway that results in hybrid cones characterized by the expression of genes associated with both cones and rods. Furthermore, the authors show that functional alteration of NR2E3 affects the expression of rod and cone signature genes, providing an interesting animal model to unveil the molecular mechanism underlying these retinal disorders.

    Major comments:

    1. Overall, the conclusions …
  3. Note: This preprint has been reviewed by subject experts for Review Commons. Content has not been altered except for formatting.

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    Referee #1

    Evidence, reproducibility and clarity

    Aísa-Marín et al. present a detailed scRNAseq description of two Nr2e3 mouse models the authors had published in Neurobiology of Disease in 2020. These two mouse models do not mirror known pathogenic variants in human patients, but are useful animal models to understand disease mechanisms in NR2E3-linked retinal degenerations. The present follow-up study has been carefully done, the bioinformatic analysis is sound and selected pathways have been validated at protein level by immunohistochemistry and Western blot. The impact of this data on photoreceptor development and maintenance is somewhat decreased because previous data by the …