Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Complete chromosome 21 centromere sequencing of families with Down syndrome.

American journal of human genetics·2026

Same author

Polymorphic CGG repeats in gene regulation and disease.

American journal of human genetics·2026

Same author

Concise synthesis of triasteranones from barbaralones.

Chemical communications (Cambridge, England)·2026

Same author

Integrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome.

Nature communications·2026

Same author

Multi-region m<sup>6</sup>A epitranscriptome profiling of the human brain reveals spatial and temporal variation and enrichment of disease-associated loci.

Nature neuroscience·2025

Same author

Improving women's healthcare providers' knowledge about fragile X-associated primary ovarian insufficiency through a novel educational tool.

Journal of assisted reproduction and genetics·2025

Same journal

Genome-wide genetic overlap between fear-based disorders and generalised anxiety disorder.

Molecular psychiatry·2026

Same journal

Cannabis use and glutamate across the psychosis spectrum: in vivo evidence from 7T proton magnetic resonance spectroscopy.

Molecular psychiatry·2026

Same journal

Subtyping OCD based on individual symptom networks: subtype-specific neural dynamics and morphometric similarity linked to molecular profiles.

Molecular psychiatry·2026

Same journal

Atrophy in preclinical Alzheimer's disease maps to a network that predicts longitudinal decline.

Molecular psychiatry·2026

Same journal

Towards modelling mental disorders in zebrafish. Neurexins severely modulate anxiety, affiliative social behaviour and aggression.

Molecular psychiatry·2026

Same journal

Targeting cortico-striatal-amygdalar networks via theta-band frontoparietal synchronization in opioid use disorder: a randomized tACS-fMRI Trial.

Molecular psychiatry·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Sep 25, 2025

Analysis of Translation in the Developing Mouse Brain using Polysome Profiling

Analysis of Translation in the Developing Mouse Brain using Polysome Profiling

Published on: May 22, 2021

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.

Molecular Psychiatry

|April 27, 2022

Summary

This summary is machine-generated.

Epitranscriptomic mechanisms, including RNA modifications like N6-methyladenosine, are crucial for brain development. Dysregulation of these modifications is linked to various neurological disorders, necessitating new mapping technologies.

More Related Videos

Lipidomics and Transcriptomics in Neurological Diseases

Lipidomics and Transcriptomics in Neurological Diseases

Published on: March 18, 2022

Purification of Transcripts and Metabolites from Drosophila Heads

Purification of Transcripts and Metabolites from Drosophila Heads

Published on: March 15, 2013

Related Experiment Videos

Last Updated: Sep 25, 2025

Analysis of Translation in the Developing Mouse Brain using Polysome Profiling

Analysis of Translation in the Developing Mouse Brain using Polysome Profiling

Published on: May 22, 2021

Lipidomics and Transcriptomics in Neurological Diseases

Lipidomics and Transcriptomics in Neurological Diseases

Published on: March 18, 2022

Purification of Transcripts and Metabolites from Drosophila Heads

Purification of Transcripts and Metabolites from Drosophila Heads

Published on: March 15, 2013

Area of Science:

Neuroscience
Molecular Biology
Genetics

Background:

Brain development involves precise timing of cell differentiation regulated by epigenetic, transcriptional, and epitranscriptomic mechanisms.
RNA modifications impact RNA metabolism, biological processes, and disease states.
Emerging evidence links epitranscriptome dysregulation to neuropsychiatric, neurodevelopmental, and neurodegenerative disorders.

Purpose of the Study:

To review current knowledge on RNA modifications in brain development and human diseases.
To discuss the roles of specific RNA modifications: N6-methyladenosine (m6A), 5-methylcytidine (m5C), pseudouridine (Ψ), A-to-I RNA editing, and 2'O-methylation (Nm).
To highlight the need for advanced technologies for mapping RNA modifications.

Main Methods:

Literature review of recent studies on epitranscriptomics in brain development and disease.
Focus on key RNA modifications and their associated enzymes.
Discussion of technological advancements and future directions.

Main Results:

RNA modifications are integral to regulating gene expression during neurodevelopment.
Specific modifications (m6A, m5C, Ψ, A-to-I editing, Nm) and their machinery play significant roles.
Aberrant epitranscriptomic profiles are associated with neurological disorders.

Conclusions:

The epitranscriptome is a critical layer of gene regulation in the brain.
Understanding RNA modifications is key to deciphering brain development and disease pathogenesis.
Development of novel technologies is essential for comprehensive analysis of RNA modifications.