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Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs

By addressing genotype-specific changes in mosaic epilepsy-associated lesions, this study highlights new potential disease mechanisms and therapeutic targets.
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Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain

A cell-type-specific analysis of how dup15q changes gene expression and chromatin accessibility in the human brain is provided and evidence of marked cell-type-specific effects of this genetic driver is found.
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A comprehensive view of somatic mosaicism by single-cell DNA analysis

A comprehensive approach for single-cell genomics is demonstrated that yields an expansive view of diverse somatic mutation types from development through aging across diverse tissues—insights that are obscured in bulk sequencing and only partially captured by other single-cell methods.
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Spatial Single-cell Analysis Decodes Cortical Layer and Area Specification

An abrupt binary shift in neuronal subtype specification at the earliest stages is discovered, challenging the notion that continuous morphogen gradients dictate mid-gestation cortical arealization and establishing a spatially resolved single-cell analysis paradigm that paves the way for a comprehensive developmental atlas of the human brain.
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Pannexin-1 channel activity regulates neurogenesis and cell survival in the developing cortex

It is shown that normal PANX1 function contributes to cortical structure through regulation of ion conductance and ATP release and provides insight into how these processes influence corticogenesis and cytoarchitecture more broadly.
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Combined somatic mutation and transcriptome analysis reveals region-specific differences in clonal architecture in human cortex

Single-nucleus sSNV and whole-transcriptome analysis reveal glutamatergic neuron clones with modest regional restrictions that share low-mosaic sSNVs with some GABAergic neurons, suggesting a recent dorsal cortical progenitor.
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Cell-type-specific patterns and consequences of somatic mutation in development and aging brain

Duplex-Multiome identified clonal sSNVs occurring at increased rates in glia of certain aged brains, as well as clonal sSNVs that correlated with changes in expression of nearby genes, in both neurotypical and autism spectrum disorder individuals, directly demonstrating that somatic mutagenesis can contribute to gene expression phenotypes.
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Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain

A cell-type-specific analysis of how dup15q changes gene expression and chromatin accessibility in the human brain is provided, and it finds evidence of marked cell-type-specific effects of this genetic driver.
PubMed (opens in a new tab)

ARX regulates cortical interneuron differentiation and migration

It is found that ARX is critical for controlling cIN numbers and distribution, especially, in the developing marginal zone (MZ), and the data suggest that the MZ stream defects primarily result from disordered cell-cell communication.
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