Functional associations of evolutionarily recent human genes exhibit sensitivity to the 3D genome landscape and disease.

ABSTRACT: Genome organization is intricately tied to regulating genes and associated cell fate decisions. Here, we examine the positioning and functional significance of human genes, grouped by their lineage restriction level, within the 3D organization of the genome. We reveal that genes of different lineage restriction levels have distinct positioning relationships with both domains and loop anchors, and remarkably consistent relationships with boundaries across cell types. While the functional associations of each group of genes are primarily cell type-specific, associations of conserved genes maintain greater stability across 3D genomic features and disease than recently evolved genes. Furthermore, the expression of these genes across various tissues follows an evolutionary progression, such tha

SUBMITTER: Fleck K 

PROVIDER: S-EPMC10980080 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature