# Dynamic RNA Modifications in human brain development and autism

> **NIH NIH U01** · EMORY UNIVERSITY · 2020 · $981,614

## Abstract

PROJECT SUMMARY
Epigenetic regulation has been shown to play pivotal roles in neurodevelopmental and neuropsychiatric
disorders. In addition to DNA and histone modifications, more than 150 post-transcriptionally modified
ribonucleosides have been identified in various types of RNA. Furthermore, recent studies have suggested that
post-transcriptional messenger RNA (mRNA) modifications are dynamically regulated and significantly impact
the outcomes of gene expression. These dynamic RNA modifications represent a critical new realm for gene
expression regulation in the form of “RNA epigenetics” or “Epitranscriptomics”. Among different RNA
modifications, our published and unpublished works suggest that m6A, m3C and m1A are dynamic and could
play important roles during neurodevelopment and, potentially, contribute to developmental pathology if
dysregulated. Autism spectrum disorder (ASD) is a clinically heterogeneous group of developmental disorders
frequently characterized by impaired social relationships, impaired language and communication, a limited
range of interests and stereotypic behaviors. We have found that ASD-linked genes are subject to extensive
RNA modifications during human brain development. We have further developed robust technologies and
pipelines to “quantitatively” profile/map these RNA specific modifications at the transcriptome-wide level in
humans. In this proposed PsychENCODE study, we will use postmortem tissue and human induced pluripotent
stem cell-derived organoids to systematically map three distinct mRNA/lncRNA modifications (m6A, m3C and
m1A) during normal human brain development and identify any differential patterns between unaffected donors
and patients with ASD. These datasets will provide a blueprint of how RNA marks impact the global
transcriptome and we will annotate prominent modifications on key transcripts important for brain development
and function. Our proposed work will identify and functionally annotate epitranscriptome marks critical to post-
transcriptional gene expression regulation across human brain development and adulthood. A systematic
analysis of these RNA modifications in the context of human brain development and ASD could provide new
functional insights into critical nodes of vulnerability for dysregulated neural development.

## Key facts

- **NIH application ID:** 9920780
- **Project number:** 5U01MH116441-03
- **Recipient organization:** EMORY UNIVERSITY
- **Principal Investigator:** PENG JIN
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $981,614
- **Award type:** 5
- **Project period:** 2018-08-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9920780

## Citation

> US National Institutes of Health, RePORTER application 9920780, Dynamic RNA Modifications in human brain development and autism (5U01MH116441-03). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9920780. Licensed CC0.

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