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Multi-omic profiling of the developing human cerebral cortex at the single-cell level.

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This study reveals how gene expression and chromatin accessibility change during human brain development. These dynamic changes in cis-regulatory elements (CREs) are crucial for neuronal development and linked to neuropsychiatric disorders.

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Area of Science:

  • Neuroscience
  • Genomics
  • Developmental Biology

Background:

  • Human brain complexity arises from dynamic gene expression during development.
  • Cis-regulatory elements (CREs) play a key role in mediating these gene expression changes.
  • Understanding these processes is vital for insights into neurodevelopmental and neuropsychiatric disorders.

Purpose of the Study:

  • To simultaneously profile gene expression and chromatin accessibility in developing human brain cells.
  • To identify cell type-specific regulatory domains and their correlation with gene expression.
  • To investigate the temporal dynamics of chromatin accessibility in relation to gene transcription and neuronal lineage commitment.

Main Methods:

  • Single-nucleus RNA sequencing and ATAC sequencing were performed on 45,549 cortical nuclei.
  • Data were collected across six developmental time points, from fetal to adult stages.
  • Computational analysis included pseudotime trajectory analysis to infer developmental relationships.

Main Results:

  • Identified cell type-specific domains where chromatin accessibility strongly correlates with gene expression.
  • Demonstrated that chromatin accessibility at CREs precedes transcriptional changes during neuronal differentiation.
  • Mapped genetic loci associated with neuropsychiatric traits, such as schizophrenia and bipolar disorder, with cell type and temporal specificity.

Conclusions:

  • Dynamic changes in chromatin structure and accessibility are critical for neuronal lineage commitment.
  • The study provides a comprehensive map of gene regulation during human brain development.
  • Findings shed light on the genetic underpinnings of neuropsychiatric diseases linked to developmental gene expression alterations.