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Updated: Dec 24, 2025

Isolation of Adult Spinal Cord Nuclei for Massively Parallel Single-nucleus RNA Sequencing
Published on: October 12, 2018
Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal
Donna M Werling1, Sirisha Pochareddy2, Jinmyung Choi2
1Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Laboratory of Genetics, University of Wisconsin-Madison, Madison, WI 53706, USA.
BrainVar links genomic variants to gene expression changes in the developing brain. These expression quantitative trait loci (eQTLs) are crucial for understanding brain development and neuropsychiatric disorders.
Area of Science:
- Neuroscience
- Genomics
- Developmental Biology
Background:
- Gene expression varies significantly with developmental stage, cell type, and brain region.
- Genomic variants are known to influence gene expression, potentially mediating the effects of neuropsychiatric disorder loci.
Purpose of the Study:
- To investigate the relationship between genomic variants and gene expression across human brain development.
- To identify expression quantitative trait loci (eQTLs) that are constant or temporally predominant during prenatal and postnatal development.
Main Methods:
- Paired whole-genome and bulk tissue RNA sequencing data from 176 individuals across prenatal and postnatal development.
- Analysis of dorsolateral prefrontal cortex tissue to identify common variants altering gene expression (eQTLs).
Main Results:
- Identified both constant and temporal-predominant eQTLs across brain development.
- Enrichment of eQTLs and specific variants in loci associated with neuropsychiatric traits and disorders.
- Over 12,000 genes showed coordinated expression changes during a late-fetal transition, enriched for cell-type-specific genes and neuropsychiatric risk loci.
Conclusions:
- Genomic variants play a critical role in shaping gene expression trajectories during human brain development.
- Temporal-predominant eQTLs are significantly associated with neuropsychiatric disorders, highlighting developmental mechanisms.
- Understanding developmental gene expression patterns is essential for comprehending brain function and pathology.
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