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March 21, 2026International Journal of Molecular SciencesOpen Access

So Fragile, So Human: Noncoding DNA Regions Orchestrating Gene Expression Involved in Neurodevelopmental Disorders and in Human Brain Evolution

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Authors

CMCarolina MarencoGPGiorgia PozzoliniMCMartina Casciaro

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Overview

This research explores gene expression in neurodevelopmental disorders, highlighting implications for brain evolution.

Key Points

  • This research aims to understand how noncoding DNA influences gene expression linked to neurodevelopmental disorders and human brain evolution.
  • Examined whole-genome sequencing data to identify DNA sequence variants in regulatory regions.
  • Discussed the role of Human Accelerated DNA Regions in brain evolution features.
  • Analyzed the interaction of transcription factors like SOX2 and FOS with noncoding DNA in neural cells.
  • Identified specific DNA variants that contribute to the risk of autism spectrum disorders.
  • Demonstrated SOX2's role in shaping the gene regulatory network relevant to neurodevelopmental disorders.
  • Highlighted potential pathways linking gene expression and human brain evolution.

Cite This Study

Marenco et al. (2026) studied this question.

synapsesocial.com/papers/69be37406e48c4981c676ccdhttps://doi.org/10.3390/ijms27062785
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