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Updated: Jun 5, 2026
Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells (NPCs)
Published on: March 2, 2018
Charting the human-specific properties of gene expression networks in the infant prefrontal cortex
Jonathan Klavert1, Djawad Radjabzadeh1, Erlantz Gonzalez Sanchez1
1Department of Developmental Biology, Erasmus University Medical Center, Wytemaweg 80, 3015 CN Rotterdam, Netherlands.
Insights
Human infants have unique brain gene expression programs, particularly in developing brain cells. These programs are linked to autism and Parkinson's disease risks, offering evolutionary and disease insights.
Area of Science:
- Neuroscience
- Developmental Biology
- Evolutionary Biology
Background:
- Human infancy features prolonged brain development and synaptic remodeling.
- Comparative genomic data from infant primates was previously lacking.
- Understanding human-specific transcriptional programs is crucial for developmental neuroscience.
Purpose of the Study:
- To identify human infant-specific transcriptional programs.
- To investigate the evolutionary and disease relevance of these programs.
- To explore the genetic underpinnings of human brain development.
Main Methods:
- Single-cell transcriptomics and epigenomics were employed.
- Analysis included rare newborn chimpanzee, human, and rhesus macaque brain samples.
- Comparative analysis identified species-specific gene expression patterns.
Main Results:
- A human infant-specific transcriptional program was identified in immature oligodendrocytes, associated with autism risk genes.
- Another human infant-specific program in the neural lineage is linked to Parkinson's disease risk genes.
- These programs form a core network with human-specific regulatory DNA changes.
Conclusions:
- Human infancy possesses unique transcriptional programs supporting brain development.
- These programs are implicated in neurodevelopmental and neurodegenerative diseases.
- The findings provide insights into human evolution and neural disease susceptibility.
Abstract:
Human infancy is characterized by protracted brain development coinciding with sensitive periods of extensive synaptic remodeling. Whether this is supported by human infant-specific transcriptional programs is unknown as comparative material in closely related primate species was unavailable. Here, we analyze rare newborn chimpanzee and age-matched human and rhesus macaque brain samples using single-cell transcriptomics and epigenomics. We identify a human infant-specific transcriptional program in immature oligodendrocytes that is overrepresented in autism risk genes and patient gene expression changes. Furthermore, a human infant-specific transcriptional program in the neural lineage is overrepresented in Parkinson's disease risk genes and patient gene expression changes. Both of these programs are part of a core transcriptional network that contains human-specific sequence changes in regulatory DNA and lacks cell lineage specificity. Our study provides insights into the stage-specific properties of human evolution during early infancy and sheds light on the human-specific propensities to neural disease.
