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Perinatal elimination of genetically aberrant human cortical neurons.
Nature · · Journal Article · Open access
Shao, Zhao + more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
Prenatal human cortical neurons show widespread somatic CNVs in 25.9% [12.7–46%] of single neurons, but this proportion drops about 4.5-fold after birth.
- Why it matters: Because postmitotic neurons are long-lived and dosage-sensitive, understanding how aberrant genomes are handled during development addresses a key gap in neuronal genome quality control.
- What they did: The study sequenced 2,357 single neurons from human postmortem cortex (fetal to postnatal) using Tn5-based amplification (1,526 neurons, 16 individuals) and primary template amplification (831 neurons, 12 individuals).
- The result: Neurons with widespread CNVs were mainly eliminated perinatally, while smaller CNV burdens declined slowly; surviving CNV neurons were depleted for dosage-sensitive and neurodevelopmental-disorder genes, and high-CNV neurons showed abnormal synaptic gene expression in 44,861 nuclei.
The findingWhy it mattersWhat they didThe result
- Open access
- 1 cites