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<p>Long non‑coding RNAs (lncRNAs) are increasingly recognized as important regulatory molecules, yet their roles remain largely unexplored in many tissues. This study aimed to identify and characterize lncRNAs involved in human retinal biology and inherited retinal disease (IRD), a leading cause of blindness worldwide. By integrating retinal tissue-specificity, location in IRD gene topologically associating domains (TADs), and co-expression analyses, we identified a set of 126 lncRNAs that are potentially regulating IRD genes. In-depth characterization of eleven selected lncRNAs, one of which is novel (<i>LINC03128</i>), allowed us to dissect their transcriptional units and cell type-specific expression, and revealed significant associations with visual function. Furthermore, knockdown of <i>LINC03127</i> in human retinal explants and retinal organoids resulted in marked downregulation of photoreceptor-related gene pathways and pointed to a potential regulatory interaction with <i>ABCA4</i>, a major IRD gene located <i>in cis</i>. Collectively, our study provides the first systematic assessment of lncRNAs in the human retina and establishes a comprehensive resource of candidate regulatory lncRNAs with potential relevance to retinal function and disease.</p>

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Retina-specific long non-coding RNAs associated with inherited retinal disease genes

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月8日

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  • Emma Delanote,
  • Karla Alejandra Ruiz-Ceja,
  • Alfredo Dueñas Rey,
  • Dalila Capasso,
  • Manon Bouckaert,
  • Martina Sofia,
  • Martina Di Guida,
  • Mario Failli,
  • Victor López Soriano,
  • Hanne Lenaerts,
  • Kelly Lemeire,
  • Birthe Dorgau,
  • Jasper Verwilt,
  • Sarah De Keulenaer,
  • Filip Van Nieuwerburgh,
  • Manon Huizing,
  • Sarah Glorieux,
  • Pieter-Jan Volders,
  • Eva D’haene,
  • Elfride De Baere,
  • Majlinda Lako,
  • Katrien Remaut,
  • Nicolina Cristina Sorrentino,
  • Pieter Mestdagh,
  • Diego di Bernardo,
  • Steve Lefever,
  • Frauke Coppieters,
  • Sandro Banfi

摘要

Long non‑coding RNAs (lncRNAs) are increasingly recognized as important regulatory molecules, yet their roles remain largely unexplored in many tissues. This study aimed to identify and characterize lncRNAs involved in human retinal biology and inherited retinal disease (IRD), a leading cause of blindness worldwide. By integrating retinal tissue-specificity, location in IRD gene topologically associating domains (TADs), and co-expression analyses, we identified a set of 126 lncRNAs that are potentially regulating IRD genes. In-depth characterization of eleven selected lncRNAs, one of which is novel (LINC03128), allowed us to dissect their transcriptional units and cell type-specific expression, and revealed significant associations with visual function. Furthermore, knockdown of LINC03127 in human retinal explants and retinal organoids resulted in marked downregulation of photoreceptor-related gene pathways and pointed to a potential regulatory interaction with ABCA4, a major IRD gene located in cis. Collectively, our study provides the first systematic assessment of lncRNAs in the human retina and establishes a comprehensive resource of candidate regulatory lncRNAs with potential relevance to retinal function and disease.