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Non-coding RNAs in retinal development and function

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Abstract

Accumulating evidence on the role of non-protein-coding RNA sequences in the regulation of gene expression is greatly expanding our understanding of the flow of genetic information within biological systems. The interplay between protein-coding and non-coding RNAs (ncRNAs) is essential for tissue development, homeostasis, and function. NcRNAs can be divided in short ncRNAs, whose main subtype is represented by microRNAs, and long ncRNAs, which constitute a more heterogeneous class. The retina is a light-sensitive tissue consisting of highly interconnected cell types and is the primary target of many genetic diseases. Among these, the genetically heterogeneous group of inherited retinal diseases (IRDs) represents the most frequent monogenic cause of visual impairment that can ultimately lead to blindness. Here, we provide an overview on the role of ncRNAs in retinal development and function with an emphasis on microRNAs and on different types of long ncRNAs. We also review how sequence variations in ncRNAs can play a pathogenic role in IRDs as well as in multifactorial ocular disorders. These data indicate that a comprehensive study of the contribution of ncRNAs to the mutation repertoire associated with retinal disease can shed light on previously unknown pathophysiological mechanisms and open new therapeutic avenues. We conclude that a more comprehensive dissection of the pathogenic role of non-coding RNAs in retinal function and disease will not only improve our diagnostic ability, but will allow the development of novel targeted therapies for ocular disease.

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Acknowledgements

We apologize to colleagues whose work could not be cited due to limitations in the number of citations. We would like to thank Enrico Maria Surace for critical reading of the manuscript. Our research is supported by the Foundation Fighting Blindness (Grant TA-NMT-0616-0701-TIGM) and Fondazione Telethon (Grant TGM16YGM02).

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Correspondence to Sandro Banfi.

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On behalf of all authors, the corresponding author states that there is no conflict of interest.

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Karali, M., Banfi, S. Non-coding RNAs in retinal development and function. Hum Genet 138, 957–971 (2019). https://doi.org/10.1007/s00439-018-1931-y

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  • DOI: https://doi.org/10.1007/s00439-018-1931-y

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