Deregulation of epigenetic marks is correlated to differential exon usage of developmental genes

Abstract

Alternative exon usage is known to affect a large portion of genes in mammalian genomes. Importantly, different splice forms sometimes lead to distinctly different protein functions. We analyzed data from the Human Epigenome Atlas (version 9) whereby we connected the differential usage of exons in various developmental stages of human cells/tissues to differential epigenetic modifications at the exon level. In total, we analyzed 19 human tissues, adult cells, and cultured cells that mimic early developmental stages. We found that the differential occurrence of protein isoforms across developmental stages was often associated with changes in histone marks at exon boundary regions. Many of the genes that are differentially regulated at the exon level were found to be functionally associated with development and metabolism.