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Updated: Jul 14, 2026

Purification of Transcripts and Metabolites from Drosophila Heads
Published on: March 15, 2013
Epitranscriptomic dynamics in brain development and disease
Andrew M Shafik1, Emily G Allen1, Peng Jin2
1Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, 30322, USA.
Abstract:
Distinct cell types are generated at specific times during brain development and are regulated by epigenetic, transcriptional, and newly emerging epitranscriptomic mechanisms. RNA modifications are known to affect many aspects of RNA metabolism and have been implicated in the regulation of various biological processes and in disease. Recent studies imply that dysregulation of the epitranscriptome may be significantly associated with neuropsychiatric, neurodevelopmental, and neurodegenerative disorders. Here we review the current knowledge surrounding the role of the RNA modifications N6-methyladenosine, 5-methylcytidine, pseudouridine, A-to-I RNA editing, 2'O-methylation, and their associated machinery, in brain development and human diseases. We also highlight the need for the development of new technologies in the pursuit of directly mapping RNA modifications in both genome- and single-molecule-level approach.

