The molecular mechanisms underlying deficits in Down syndrome remain unclear. Here, the authors show that copy number restoration of a chromatin remodeler in trisomic mice is sufficient to rescue epigenomic, physiological and cognitive deficits.
The authors generated the largest epigenome atlas of postmortem brains with Alzheimer’s disease. They reported regulatory genomic signatures associated with AD, including variability in open chromatin regions, transcription factor networks and cis-regulatory domains.
Cross-disorder genetic association analyses identify five loci differentiating attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Individuals diagnosed with both ADHD and ASD are double-loaded with genetic risk for both disorders.
Here, we show that the fine-mapped GWAS locus in the ATP2A2 gene of the PKC pathway harbors enhancer marks by ATACseq and ChIPseq, and regulates ATP2A2 expression.
Girdhar et al. constructed chromosomal domains from prefrontal histone acetylation and methylation maps and discovered, in a large cohort of schizophrenia and bipolar brains, converging alignment by genetic risk, neuronal function and three-dimensional genomics.
Association analyses using resting-state functional magnetic resonance images identify common genetic variants influencing intrinsic brain activity. Variation in brain function is genetically correlated with several neuropsychiatric traits.
A multi-ancestry expression quantitative trait locus meta-analysis of 3,983 RNA-seq samples from 2,119 donors using the multivariate multiple QTL (mmQTL) approach characterizes the genetics of gene expression in the human brain and identifies candidate causal variants for brain-related traits.
RNAseq and ATACseq are utilized to identify transcription factors participating in striatal compartmentation into striosome and matrix, and roles for Stat1, Olig2, and Foxf2 are validated in vitro and in vivo.
Transcriptomic and epigenomic profiling of human microglia identifies putative gene regulatory mechanisms for 21 Alzheimer’s disease (AD) risk loci. SPI1/PU.1 is nominated as a key regulator of microglia gene expression and AD risk.