# Deciphering cell-type-and temporally specific matrisome expression signatures in human cortical development and neurodevelopmental disorders via scRNA-seq meta-analysis

**Authors:** Do Hyeon Gim, Muhammad Z. K. Assir, Olivia Soper, Paul A. Fowler, Michael D. Morgan, Daniel A. Berg, Eunchai Kang

PMC · DOI: 10.1038/s41467-025-64381-3 · Nature Communications · 2025-11-11

## TL;DR

This study maps how matrisome genes change in different cell types during human brain development and links these changes to neurodevelopmental disorders.

## Contribution

The study provides a novel meta-analysis of scRNA-seq data to identify cell-type-specific matrisome gene signatures in human cortical development.

## Key findings

- Distinct matrisome gene signatures were identified across various cell types during cortical development.
- Many matrisome genes show associations with neurodevelopmental disorders, with cell-type and temporal specificity.
- The study highlights the role of the extracellular matrix in both normal brain development and disease pathogenesis.

## Abstract

Human cortical development is a complex process involving the proliferation, differentiation, and migration of progenitor cells, all coordinated within a dynamic extracellular matrix (ECM). ECM plays a crucial role in guiding these processes, yet its specific contributions and the implications of its dysregulation in neurodevelopmental disorders (NDDs) remain underexplored. In this study, we conducted a meta-analysis of single-cell RNA sequencing (scRNA-seq) data from 37 donors, gestational weeks 8 to 26, across six independent studies to elucidate cell-type-specific matrisome gene expression signatures and their dynamics in the developing human cortex. Our analysis identified distinct matrisome gene signatures across various cell types, with significant temporal changes during cortical development. Notably, a substantial proportion of matrisome genes are associated with NDDs, exhibiting cell-type, temporal, and disease specificity. These findings highlight the critical role of cell-type-specific matrisome regulation in cortical development and its potential involvement in NDD pathogenesis. This study provides a comprehensive map of cell-type-specific matrisome signatures in the developing human cortex and highlights the importance of ECM in both normal development and the pathogenesis of NDDs.

Human cortical development involves dynamic changes in matrisome gene expression across cell types and developmental stages. Here, authors show that these changes reveal links to neurodevelopmental disorders and provide insights into brain formation and diseases.

## Linked entities

- **Species:** Homo sapiens (taxon 9606)

## Full-text entities

- **Diseases:** NDDs (MESH:D002658)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

8 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12606316/full.md

## References

9 references — full list in the complete paper: https://tomesphere.com/paper/PMC12606316/full.md

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Source: https://tomesphere.com/paper/PMC12606316