Cross-ancestry, cell-type-informed atlas of gene, isoform, and splicing regulation in the developing human brain.

ABSTRACT: Genomic regulatory elements active in the developing human brain are notably enriched in genetic risk for neuropsychiatric disorders, including autism spectrum disorder (ASD), schizophrenia, and bipolar disorder. However, prioritizing the specific risk genes and candidate molecular mechanisms underlying these genetic enrichments has been hindered by the lack of a single unified large-scale gene regulatory atlas of human brain development. Here, we uniformly process and systematically characterize gene, isoform, and splicing quantitative trait loci (xQTLs) in 672 fetal brain samples from unique subjects across multiple ancestral populations. We identify 15,752 genes harboring a significant xQTL and map 3,739 eQTLs to a specific cellular context. We observe a striking drop in gene expression

SUBMITTER: Wen C 

PROVIDER: S-EPMC10029021 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature