Spatiotemporal 7q11.23 protein network analysis implicates the role of DNA repair pathway during human brain development.

ABSTRACT: Recurrent deletions and duplications of chromosome 7q11.23 copy number variants (CNVs) are associated with several psychiatric disorders. Although phenotypic abnormalities have been observed in patients, causal genes responsible for CNV-associated diagnoses and traits are still poorly understood. Furthermore, the targeted human brain regions, developmental stages, protein networks, and signaling pathways, influenced by this CNV remain unclear. Previous works showed GTF2I involved in Williams-Beuren syndrome, but pathways affected by GTF2I are indistinct. We first constructed dynamic spatiotemporal networks of 7q11.23 genes by combining data from the brain developmental transcriptome with physical interactions of 7q11.23 proteins. Topological changes were observed in protein-protein interac

SUBMITTER: Chen L 

PROVIDER: S-EPMC8050238 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature