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Mid-gestational cell-type-specific transcriptomic signatures in the prefrontal and superior temporal cortex in Down
Rui-Ze Niu1,2, Lu-Lu Xue1,3, Xiao-He Tian1
1Department of Anesthesiology, The First People's Hospital of Zunyi (The Third Affiliated Hospital of Zunyi Medical University), Zunyi, Guizhou, China.
Nature Communications
|December 11, 2025
Summary
This study reveals key molecular changes in the developing brain of Down syndrome (DS) fetuses. We identified disrupted gene expression and cell communication impacting brain development in DS.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Cellular and molecular mechanisms of cortical alterations in Down syndrome (DS) during fetal development are poorly understood.
- Early brain development in DS is characterized by complex genetic and cellular changes.
Purpose of the Study:
- To investigate cell-type- and region-specific transcriptional alterations in mid-gestational DS brains.
- To identify key genes and pathways involved in DS-related cortical abnormalities.
Main Methods:
- Single-nucleus RNA sequencing (snRNA-seq) on fetal DS and control brain samples (prefrontal cortex and superior temporal plane cortex).
- Comparative spatiotemporal analyses to decode transcriptional changes associated with chromosome 21 abnormalities.
Main Results:
- Disrupted inhibitory-to-excitatory balance and abnormal excitatory neuron distribution in DS brains.
- RUNX1 and APP identified as significantly dysregulated chromosome 21 genes in specific cortical regions.
- Impaired neuronal migration and lactylation metabolism contribute to cortical abnormalities, with glial cells modulating neuronal development.
Conclusions:
- Provides critical insights into the pathogenesis of mid-gestational cortical abnormalities in Down syndrome.
- Offers valuable resources for DS disease modeling and developing targeted therapeutic strategies.
Related Concept Videos
01:10Transcription
Overview
Transcription is the process of synthesizing RNA from a DNA sequence by RNA polymerase. It is the first step in producing a protein from a gene sequence. Additionally, many other proteins and regulatory sequences are involved in the proper synthesis of messenger RNA (mRNA). Regulation of transcription is responsible for the differentiation of all the different types of cells and often for the proper cellular response to environmental signals.
Transcription Can Produce Different Kinds...
Transcription is the process of synthesizing RNA from a DNA sequence by RNA polymerase. It is the first step in producing a protein from a gene sequence. Additionally, many other proteins and regulatory sequences are involved in the proper synthesis of messenger RNA (mRNA). Regulation of transcription is responsible for the differentiation of all the different types of cells and often for the proper cellular response to environmental signals.
Transcription Can Produce Different Kinds...
02:16Transcription Factors
Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
03:17Inheritance of Chromatin Structures
Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying DNA...
02:35Chromatin Position Affects Gene Expression
Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area.
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the timing and level of...
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the timing and level of...
01:17Transcription
Transcription is the synthesis of RNA from a DNA sequence by RNA polymerase. It is the first step in producing a protein from a gene sequence. Additionally, many other proteins and regulatory sequences are involved in correctly synthesizing messenger RNA (mRNA). Transcriptional regulation is responsible for the differentiation of different types of cells and often for the proper cellular response to environmental signals.
Transcription Can Produce Different Kinds of RNA Molecules
In eukaryotes,...
Transcription Can Produce Different Kinds of RNA Molecules
In eukaryotes,...
01:30General Transcription Factors
Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...