Single-cell analyses reveal increased gene expression variability in human neurodevelopmental conditions.

ABSTRACT: Interindividual variation in phenotypic penetrance and severity is found in many neurodevelopmental conditions, although the underlying mechanisms remain largely unresolved. Within individuals, homogeneous cell types (i.e., genetically identical and in similar environments) can differ in molecule abundance. Here, we investigate the hypothesis that neurodevelopmental conditions can drive increased variability in gene expression, not just differential gene expression. Leveraging independent single-cell and single-nucleus RNA sequencing datasets derived from human brain-relevant cell and tissue types, we identify a significant increase in gene expression variability driven by the autosomal aneuploidy trisomy 21 (T21) as well as autism-associated chromodomain helicase DNA binding protein 8 (CH

SUBMITTER: Upadhya S 

PROVIDER: S-EPMC12081229 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature