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Charting the human-specific properties of gene expression networks in the infant prefrontal cortex.

Overview

Authors: Jonathan Klavert1, Djawad Radjabzadeh1, Erlantz Gonzalez Sanchez1, Bas Castelijns2, Ilia S Timpanaro2,3, Joachim Boers1, Federica Fabro1, Gerjanne Vroeg in de wei1, Eric Bindels4, Ivanela Kondova5, Joost Gribnau1, Menno P Creyghton1
ORCID iDs: Jonathan Klavert, Djawad Radjabzadeh, Erlantz Gonzalez Sanchez, Bas Castelijns, Joachim Boers, Federica Fabro, Gerjanne Vroeg in de wei, Eric Bindels, Joost Gribnau, Menno P Creyghton
  1. Department of Developmental Biology, Erasmus University Medical Center, Wytemaweg 80, 3015 CN Rotterdam, Netherlands
  2. Hubrecht Institute-KNAW & University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, Netherlands
  3. Rudolf Magnus Brain Center, University Medical Center Utrecht, Heidelberglaan 100, 3584 XC Utrecht, Netherlands
  4. Department of Hematology, Erasmus University Medical Center, Wytemaweg 80, 3015 CN Rotterdam, Netherlands
  5. Biomedical Primate Research Center, Lange Kleiweg 161, 2288 GJ Rijswijk, Netherlands
Institutions: Erasmus MC (Netherlands); Erasmus University Rotterdam (Netherlands); University Medical Center Utrecht (Netherlands); Biomedical Primate Research Centre (Netherlands)
Journal: Science advances, volume 12, issue 23, article eaea3316
Dates: received 7 July 2025; accepted 27 April 2026; published online 3 June 2026; in print June 2026
Type: Research article · Language: English
License: CC BY
Identifiers: DOI 10.1126/sciadv.aea3316 · PMID 42234754 · PMCID PMC13232592 · OpenAlex W7163382529
Open access: gold, a free copy (OpenAlex)
Status: data only
Categories: genetics / omics (modality), human (organism), non-human primate (organism), Parkinson's (population), autism (population)
MeSH: Gene Expression Regulation, Developmental*, Gene Regulatory Networks*, Prefrontal Cortex*, Animals, Autistic Disorder, Humans, Infant, Macaca mulatta, Oligodendroglia, Pan troglodytes, Parkinson Disease, Single-Cell Gene Expression Analysis, Transcriptome (* major topic)
Topic: Single-cell and spatial transcriptomics (Molecular Biology, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Citations: not cited yet (Europe PMC); 82 references in the paper

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.

Reproduced under the paper's license (CC BY), from the paper cited above.

Code

The paper links to its data, not to its authors' code: see the Data section.

The paper's code and data availability statement is in the Data section.

Tracing map

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Data

Datasets cited

Data, code, and materials availability

All data and code needed to evaluate and reproduce the results in the paper are present in the paper and/or the Supplementary Materials. No new materials were generated in this study. All raw FASTQ data files and final gene-by-cell count matrixes are available at the NIH Gene Expression Omnibus (GEO) under accession number: GSE294786 (https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE294786) (https://ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE294786). Nonhuman primate brain tissues (chimpanzee and rhesus macaque) used in this study can be provided by the BPRC biobank depending on availability and pending scientific review as well as a completed material transfer agreement with BPRC. Inquiries about available nonhuman primate brain tissues and requests for nonhuman primate brain tissues should be submitted to the BPRC at brain tissues used in this study were acquired from the NIH Human Brain Collection Core (HBCC) following scientific review and a material transfer agreement. Inquiries about available human brain tissues or requests for human brain tissues can be made with the HBCC at following the following steps: HBCC (https://www.nimh.nih.gov/research/research-conducted-at-nimh/research-areas/research-support-services/hbcc/make-a-request).

Reproduced under the paper's license (CC BY), from the paper cited above.

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 1, 27 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 12 authors, 13 MeSH terms, 82 references.

Cite

This paper

Klavert, J., Radjabzadeh, D., Gonzalez Sanchez, E., Castelijns, B., Timpanaro, I. S., Boers, J., Fabro, F., Vroeg in de wei, G., Bindels, E., Kondova, I., Gribnau, J., & Creyghton, M. P. (2026). Charting the human-specific properties of gene expression networks in the infant prefrontal cortex. Science advances, 12(23), eaea3316. https://doi.org/10.1126/sciadv.aea3316

BibTeX

@article{klavert2026charting,
author = {Klavert, Jonathan and Radjabzadeh, Djawad and Gonzalez Sanchez, Erlantz and Castelijns, Bas and Timpanaro, Ilia S and Boers, Joachim and Fabro, Federica and Vroeg in de wei, Gerjanne and Bindels, Eric and Kondova, Ivanela and Gribnau, Joost and Creyghton, Menno P},
title = {{Charting the human-specific properties of gene expression networks in the infant prefrontal cortex}},
journal = {Science advances},
year = {2026},
month = jun,
volume = {12},
number = {23},
pages = {eaea3316},
publisher = {American Association for the Advancement of Science},
issn = {2375-2548},
doi = {10.1126/sciadv.aea3316},
url = {https://doi.org/10.1126/sciadv.aea3316},
pmid = {42234754},
pmcid = {PMC13232592}
}

RIS

TY - JOUR
AU - Klavert, Jonathan
AU - Radjabzadeh, Djawad
AU - Gonzalez Sanchez, Erlantz
AU - Castelijns, Bas
AU - Timpanaro, Ilia S
AU - Boers, Joachim
AU - Fabro, Federica
AU - Vroeg in de wei, Gerjanne
AU - Bindels, Eric
AU - Kondova, Ivanela
AU - Gribnau, Joost
AU - Creyghton, Menno P
TI - Charting the human-specific properties of gene expression networks in the infant prefrontal cortex
T2 - Science advances
J2 - Sci Adv
PY - 2026
DA - 2026/06/03
VL - 12
IS - 23
SP - eaea3316
SN - 2375-2548
PB - American Association for the Advancement of Science
DO - 10.1126/sciadv.aea3316
UR - https://doi.org/10.1126/sciadv.aea3316
LA - en
ER -

CSL-JSON

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