Differential exon usage of developmental genes is associated with deregulated epigenetic marks

Abstract

Alternative exon usage is known to afect a large portion of genes in mammalian genomes. Importantly, diferent splice isoforms sometimes possess distinctly diferent protein functions. Here, we analyzed data from the Human Epigenome Atlas for 11 diferent human adult tissues and for 8 cultured cells that mimic early developmental stages. We found a signifcant enrichment of cases where diferential usage of exons in various developmental stages of human cells and tissues is associated with diferential epigenetic modifcations in the fanking regions of individual exons. Many of the genes that were diferentially regulated at the exon level and showed deregulated histone marks at the respective exon fanks are functionally associated with development and metabolism.